Is ERICH4 p.Arg63Gln (c.188G>A) pathogenic?

ERICH4 p.Arg63Gln (c.188G>A) is classified Likely benign in ERICH4 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-08-10). AlphaMissense: likely benign (0.0706); Very rare (popmax 0.00933%, nfe).

How common is ERICH4 p.Arg63Gln (c.188G>A) in the general population?

ERICH4 p.Arg63Gln (c.188G>A) is very rare (popmax 0.00933%, nfe) (gnomAD).

What do computational predictors say about ERICH4 p.Arg63Gln (c.188G>A)?

AlphaMissense predicts likely benign (score 0.0706) — an in-silico prediction, not a clinical call.

ERICH4 p.Arg63Gln

c.188G>A · rs941271703 · VCV2235185

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0706 · ACMG-weighted

gnomAD v4.1

Rare

very rare (popmax 0.00933%, nfe)

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0706	likely benign
REVEL	0.036	moderately benign-leaning
SaProt	LLR -6.05	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 0.32	GERP -2.2
Regional constraint	o/e 1.03	unconstrained · MANE · 1,051 bp · p 0.74 · regional, not allelic
Overall
CADD	1.393	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 0.00933% European (non-Finnish) · 107/1,146,266 alleles

Filtering AF 0.00788% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00729%

Overall 0.00729% 113/1,549,284 alleles · very rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.00933%	10,713
Remaining individualsnot grpmax-eligible	0.00667%	14,987
African / African-American	0.00137%	72,996
South Asian	0.00119%	83,930

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: ERICH4
Protein: p.Arg63Gln
Coding: c.188G>A
MANE Select: NM_001130514
dbSNP: rs941271703
Type: single nucleotide variant
Location: chr19:41444019 (GRCh38)
Gene constraint: LOEUF 1.89 · pLI 0.01 (gnomAD)
Structure: AlphaFold pLDDT 78.60

Full ERICH4 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ERICH4 p.Ala120Val Uncertain significance ★ ⚠ same type
ERICH4 p.Arg55Lys Uncertain significance ★ ⚠ same type
ERICH4 p.Arg62Cys Uncertain significance ★ ⚠ same type
ERICH4 p.Arg62His Uncertain significance ★ ⚠ same type
ERICH4 p.Arg83Gln Uncertain significance ★ ⚠ same type
ERICH4 p.Gln107Arg Uncertain significance ★ ⚠ same type
ERICH4 p.Gln22His Uncertain significance ★ ⚠ same type
ERICH4 p.Gln35Glu Uncertain significance ★ ⚠ same type

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/erich4-p-arg63gln (accessed [today's date]).

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