E25G (p.Glu25Gly) variant of COL4A5 (Collagen alpha-5(IV) chain)
E25G (p.Glu25Gly) 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 and structural context.
E25G (p.Glu25Gly) variant details
- p.Glu25Gly
- Ensembl rs2064373731
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.49
- MetaLR 0.62
- MetaSVM 0.06
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.30
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available