A94V (p.Ala94Val) variant of COL2A1 (Collagen alpha-1(II) chain)
A94V (p.Ala94Val) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A94V (p.Ala94Val) variant details
- p.Ala94Val
- rs1224104246
- ClinGen CA384525777
- ClinVar RCV001903815
- TOPMed rs1224104246
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.18
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available