E56D (p.Glu56Asp) variant of COL4A5 (Collagen alpha-5(IV) chain)
E56D (p.Glu56Asp) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E56D (p.Glu56Asp) variant details
- p.Glu56Asp
- gnomAD X-108559090-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.24
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available