I112V (p.Ile112Val) variant of COL2A1 (Collagen alpha-1(II) chain)
I112V (p.Ile112Val) 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 0.30 / 1. The record also includes population frequency data and structural context.
I112V (p.Ile112Val) variant details
- p.Ile112Val
- rs777293765
- ClinGen CA6536014
- ClinVar RCV003043051
- ExAC rs777293765
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.20
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.65
- 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