R8M (p.Arg8Met) variant of COL4A3 (Collagen alpha-3(IV) chain)
R8M (p.Arg8Met) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R8M (p.Arg8Met) variant details
- p.Arg8Met
- gnomAD 2-227164749-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.31
- CADD 19.00
- PolyPhen-2 0.53
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available