Is ERI1 p.Pro24Arg (c.71C>G) pathogenic?

ERI1 p.Pro24Arg (c.71C>G) is classified Likely benign in ERI1 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-05-01). AlphaMissense: likely benign (0.0612); Rare (popmax 0.718%, afr); Associated with ERI1-related disorder.

What condition is associated with ERI1 p.Pro24Arg (c.71C>G)?

ERI1 p.Pro24Arg (c.71C>G) is associated with ERI1-related disorder (ClinVar).

How common is ERI1 p.Pro24Arg (c.71C>G) in the general population?

ERI1 p.Pro24Arg (c.71C>G) is rare (popmax 0.718%, afr) (gnomAD).

What do computational predictors say about ERI1 p.Pro24Arg (c.71C>G)?

AlphaMissense predicts likely benign (score 0.0612) — an in-silico prediction, not a clinical call.

ERI1 p.Pro24Arg

c.71C>G · rs61736769 · VCV3055311

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0612 · ACMG-weighted

gnomAD v4.1

Rare

rare (popmax 0.718%, afr)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

ERI1-related disorder

Computational evidence

Protein change
AlphaMissense	0.0612	likely benign
REVEL	0.042	moderately benign-leaning
SaProt	LLR -6.80	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.49	GERP -2.2
Regional constraint	o/e 1.39	unconstrained · MANE · 27 kb · p 9.3e-16 · regional, not allelic
Overall
CADD	11.37	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.718% African / African-American · 464/64,580 alleles

Filtering AF 0.664% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.643%

Overall 0.0432% 538/1,245,180 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.718%	139
Remaining individualsnot grpmax-eligible	0.0892%	1,121
Admixed American	0.0881%	1,135
Middle Eastern	0.029%	3,446
South Asian	0.0116%	8,606
European (non-Finnish)	0.000808%	123,783

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: ERI1
Protein: p.Pro24Arg
Coding: c.71C>G
MANE Select: NM_153332
dbSNP: rs61736769
Type: single nucleotide variant
Location: chr8:9003134 (GRCh38)
Gene constraint: LOEUF 1.526 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.04 · 5 PDB
Residue 24: a UniProt-annotated variant site (in semdgc; likely pathogenic); the 'disordered' region

Full ERI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

ERI1-related disorder

Similar variants

ERI1 p.Gln244Ter Likely pathogenic ★ same condition
ERI1 p.Lys237Asn Uncertain significance ★ ⚠ same condition
ERI1 c.582+10C>T Likely benign same condition
ERI1 c.583-9T>C Likely benign same condition
ERI1 p.Cys139= Likely benign same condition
ERI1 p.Leu16Pro Benign same condition
ERI1 p.Tyr109= Likely benign same condition
ERI1 c.109-11_109-6del Likely benign same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/eri1-p-pro24arg (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown