A24T (p.Ala24Thr) variant of COL4A3 (Collagen alpha-3(IV) chain)
A24T (p.Ala24Thr) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- gnomAD 2-227164796-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.13
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available