A27V (p.Ala27Val) variant of COL4A5 (Collagen alpha-5(IV) chain)
A27V (p.Ala27Val) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- Ensembl rs2147448155
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.47
- MetaLR 0.62
- MetaSVM -0.09
- CADD 24.50
- PolyPhen-2 0.97
- SIFT 0.04
- Population evidence available
- Structural context available