A24V (p.Ala24Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
A24V (p.Ala24Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A24V (p.Ala24Val) variant details
- p.Ala24Val
- gnomAD 2-227164797-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.15
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available