S28N (p.Ser28Asn) variant of COL4A3 (Collagen alpha-3(IV) chain)
S28N (p.Ser28Asn) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- gnomAD 2-227164809-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.17
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available