ERMP1 p.Ala196Asp
c.587C>A · VCV3846127
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
AlphaMissense
ambiguous
0.3991 · 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 | 0.3991 | ambiguous |
|---|---|---|
| REVEL | 0.185 | benign-leaning |
| SaProt | LLR -14.20 | 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 12 | GERP 1.6, phastCons 1 |
| Regional constraint | o/e 1.20 | unconstrained · MANE · 46 kb · p 1.4e-11 · regional, not allelic |
| Overall | ||
| CADD | 24.8 | 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
- ERMP1
- Protein
- p.Ala196Asp
- Coding
- c.587C>A
- MANE Select
- NM_024896
- Type
- single nucleotide variant
- Location
- chr9:5830780 (GRCh38)
- Gene constraint
- LOEUF 1.239 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 89.45
Similar variants
- ERMP1 c.1021+6T>C Likely benign ★★ same type
- ERMP1 p.Gly809= Benign ★★ same type
- ERMP1 p.Ser531= Benign ★★ same type
- ERMP1 p.Val404= Benign ★★ same type
- ERMP1 p.Ala109Gly Uncertain significance ★ ⚠ same type
- ERMP1 p.Ala109Val Uncertain significance ★ ⚠ same type
- ERMP1 p.Ala112Thr Uncertain significance ★ ⚠ same type
- ERMP1 p.Ala202Thr 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/ermp1-p-ala196asp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown