C31R (p.Cys31Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
C31R (p.Cys31Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
C31R (p.Cys31Arg) variant details
- p.Cys31Arg
- gnomAD 2-227237971-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- REVEL 0.73
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available