E25E (p.Glu25Glu) variant of COL4A5 (Collagen alpha-5(IV) chain)
E25E (p.Glu25Glu) in COL4A5 (Collagen alpha-5(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E25E (p.Glu25Glu) variant details
- p.Glu25Glu
- gnomAD X-108440200-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 14.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available