A27V (p.Ala27Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
A27V (p.Ala27Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- gnomAD 2-227164806-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.17
- CADD 8.00
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available