ERCC6L2 p.Pro95=
c.285A>C · VCV3845872
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00334%, amr)
Conditions
1
Inborn genetic diseases
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 0.26 | GERP -4.9, phastCons 0.35 |
| Overall | ||
| CADD | 5.43 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00334%
Admixed American · 2/59,800 alleles
Filtering AF
0.000555%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000208%
Overall
0.000372%
6/1,613,360 alleles · very rare
exomes 6/1,461,028 · genomes 0/152,332 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.00334% | 29,900 |
| European (non-Finnish) | 0.000339% | 294,949 |
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
- ERCC6L2
- Protein
- p.Pro95=
- Coding
- c.285A>C
- MANE Select
- NM_020207
- Type
- single nucleotide variant
- Location
- chr9:95881107 (GRCh38)
- Gene constraint
- LOEUF 0.792 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 58.11 · 2 PDB
Similar variants
- ERCC6L2 p.Pro95Ala Uncertain significance ★★ same residue
- ERCC6L2 p.Ala26Val Uncertain significance ★★ same condition
- ERCC6L2 p.Ala290Val Uncertain significance ★★ same condition
- ERCC6L2 p.Ala345Thr Uncertain significance ★★ same condition
- ERCC6L2 p.Ala37Thr Uncertain significance ★★ same condition
- ERCC6L2 p.Ala460Thr Uncertain significance ★★ same condition
- ERCC6L2 p.Ala464Val Uncertain significance ★★ same condition
- ERCC6L2 p.Ala465Gly Uncertain significance ★★ 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/ercc6l2-p-pro95 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown