S28R (p.Ser28Arg) variant of COL4A3 (Collagen alpha-3(IV) chain)
S28R (p.Ser28Arg) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- Ensembl rs2065153270
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.19
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.39
- Population evidence available
- Structural context available