G30V (p.Gly30Val) variant of COL4A3 (Collagen alpha-3(IV) chain)
G30V (p.Gly30Val) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
G30V (p.Gly30Val) variant details
- p.Gly30Val
- gnomAD 2-227237969-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.61
- CADD 25.30
- PolyPhen-2 0.58
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available