S2I (p.Ser2Ile) variant of COL4A3 (Collagen alpha-3(IV) chain)
S2I (p.Ser2Ile) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S2I (p.Ser2Ile) variant details
- p.Ser2Ile
- gnomAD 2-227164731-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.10
- CADD 9.46
- PolyPhen-2 0.04
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available