G75E (p.Gly75Glu) variant of COL4A5 (Collagen alpha-5(IV) chain)
G75E (p.Gly75Glu) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
G75E (p.Gly75Glu) variant details
- p.Gly75Glu
- gnomAD X-108559146-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.98
- CADD 24.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available