G102V (p.Gly102Val) variant of COL5A2 (Collagen alpha-2(V) chain)
G102V (p.Gly102Val) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
G102V (p.Gly102Val) variant details
- p.Gly102Val
- ESP rs151146283
- ExAC rs151146283
- TOPMed rs151146283
- gnomAD rs151146283
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.10
- CADD 14.80
- PolyPhen-2 0.03
- SIFT 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available