A22V (p.Ala22Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
A22V (p.Ala22Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- gnomAD 2-227164791-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.20
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.48
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available