ERI1 p.Pro271Thr
c.811C>A · VCV3846018
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.3906 · ACMG-weighted
gnomAD v4.1
Absent
absent from gnomAD v4.1
Missense predictors
1/2 damaging
REVEL, SaProt · AlphaMissense no call
Computational evidence
| Protein change | ||
| AlphaMissense | 0.3906 | ambiguous |
|---|---|---|
| REVEL | 0.145 | moderately benign-leaning |
| SaProt | LLR -10.04 | damaging |
| ⇒ SaProt calls this damaging; REVEL does not; AlphaMissense makes no call. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 6 | GERP 2.1, phastCons 1 |
| Regional constraint | o/e 1.39 | unconstrained · MANE · 27 kb · p 9.3e-16 · regional, not allelic |
| Overall | ||
| CADD | 23.2 | 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
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ERI1
- Protein
- p.Pro271Thr
- Coding
- c.811C>A
- MANE Select
- NM_153332
- Type
- single nucleotide variant
- Location
- chr8:9029795 (GRCh38)
- Gene constraint
- LOEUF 1.526 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.04 · 5 PDB
- Residue 271
- a UniProt-annotated variant site (in semdgc; likely pathogenic); a UniProt-annotated variant site (in hxal; likely pathogenic); the exonuclease domain
Similar variants
- ERI1 p.Ser333Tyr Uncertain significance ★★ ⚠ same type
- ERI1 p.Thr221Ala Uncertain significance ★★ ⚠ same type
- ERI1 p.Arg291= Benign ★★ same type
- ERI1 p.Arg304Ter Likely pathogenic ★ same type
- ERI1 p.Asp134Gly Likely pathogenic ★ same type
- ERI1 p.Asp298Gly Likely pathogenic ★ same type
- ERI1 p.Gln244Ter Likely pathogenic ★ same type
- ERI1 p.Glu150Asp Likely pathogenic ★ 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/eri1-p-pro271thr (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown