G43V (p.Gly43Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
G43V (p.Gly43Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G43V (p.Gly43Val) variant details
- p.Gly43Val
- gnomAD 2-227238008-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.58
- CADD 21.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available