A83V (p.Ala83Val) variant of COL5A2 (Collagen alpha-2(V) chain)
A83V (p.Ala83Val) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
A83V (p.Ala83Val) variant details
- p.Ala83Val
- rs866611080
- NCI-TCGA Cosmic COSV6641
- Ensembl rs866611080
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- AlphaMissense 0.07
- MetaLR 0.22
- MetaSVM -0.78
- PolyPhen-2 0.01
- SIFT 0.78
- MutPred 0.73
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available