S28I (p.Ser28Ile) variant of COL4A3 (Collagen alpha-3(IV) chain)
S28I (p.Ser28Ile) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S28I (p.Ser28Ile) variant details
- p.Ser28Ile
- gnomAD 2-227164809-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.21
- CADD 17.20
- PolyPhen-2 0.02
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available