A24S (p.Ala24Ser) variant of COL4A3 (Collagen alpha-3(IV) chain)
A24S (p.Ala24Ser) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- gnomAD 2-227164796-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.13
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available