A24T (p.Ala24Thr) variant of COL4A5 (Collagen alpha-5(IV) chain)
A24T (p.Ala24Thr) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A24T (p.Ala24Thr) variant details
- p.Ala24Thr
- gnomAD rs1216405231
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.30
- MetaLR 0.46
- MetaSVM -0.53
- CADD 22.80
- PolyPhen-2 0.11
- SIFT 0.79
- Population evidence available
- Structural context available