G348V (p.Gly348Val) variant of COL2A1 (Collagen alpha-1(II) chain)
G348V (p.Gly348Val) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
G348V (p.Gly348Val) variant details
- p.Gly348Val
- rs2136590361
- ClinGen CA384555455
- ClinVar RCV003079143
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.968
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available