A24E (p.Ala24Glu) variant of COL4A5 (Collagen alpha-5(IV) chain)
A24E (p.Ala24Glu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A24E (p.Ala24Glu) variant details
- p.Ala24Glu
- gnomAD X-108440196-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.45
- MetaLR 0.41
- MetaSVM -0.51
- CADD 20.40
- PolyPhen-2 0.14
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available