C33R (p.Cys33Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
C33R (p.Cys33Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
C33R (p.Cys33Arg) variant details
- p.Cys33Arg
- gnomAD 2-227237977-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.65
- CADD 26.20
- PolyPhen-2 0.92
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available