ERMAP p.Pro345=
c.1035G>A · rs138178066 · VCV3035409
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.136%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -13 | GERP -3.7 |
| Overall | ||
| CADD | 3.971 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.136%
African / African-American · 102/75,022 alleles
Filtering AF
0.115%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.107%
Overall
0.0385%
621/1,614,136 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.136% | 736 |
| Remaining individualsnot grpmax-eligible | 0.0688% | 1,454 |
| European (non-Finnish) | 0.0369% | 2,713 |
| Admixed American | 0.0333% | 3,001 |
| Finnishnot grpmax-eligible | 0.0203% | 4,926 |
| South Asian | 0.00659% | 15,180 |
| East Asian | 0.00446% | 22,439 |
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
- ERMAP
- Protein
- p.Pro345=
- Coding
- c.1035G>A
- MANE Select
- NM_001017922
- dbSNP
- rs138178066
- Type
- single nucleotide variant
- Location
- chr1:42842839 (GRCh38)
- Gene constraint
- LOEUF 0.913 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.22
- Residue 345
- a UniProt-annotated variant site (in sc-3 allele); the b30.2/spry domain
Similar variants
- ERMAP p.Pro345Ser Uncertain significance ★ ⚠ same residue
- ERMAP p.Ala4Val Benign ★★ same type
- ERMAP p.Arg73= Benign ★★ same type
- ERMAP p.Ala157Ser Uncertain significance ★ ⚠ same type
- ERMAP p.Ala34Ser Uncertain significance ★ ⚠ same type
- ERMAP p.Ala449Ser Uncertain significance ★ ⚠ same type
- ERMAP p.Arg117His Uncertain significance ★ ⚠ same type
- ERMAP p.Arg231Gly 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/ermap-p-pro345 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown