R8S (p.Arg8Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
R8S (p.Arg8Ser) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- gnomAD 2-227164750-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.32
- CADD 7.46
- PolyPhen-2 0.06
- SIFT 0.23
- Population evidence available
- Structural context available
- Literature evidence available