G22V (p.Gly22Val) variant of COL1A1 (Collagen alpha-1(I) chain)
G22V (p.Gly22Val) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of COL1A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
G22V (p.Gly22Val) variant details
- p.Gly22Val
- rs2509266853
- ClinGen CA2695200277
- ClinVar RCV004550628
- Likely pathogenic
- COL1A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- ESM-1b 1.00
- AlphaMissense 0.23
- ClinVar: Likely pathogenic (COL1A1-related disorder)
- EBI: Likely pathogenic (in OI2)
- UniProt: Likely pathogenic (in OI2)
- Structural context available