E75K (p.Glu75Lys) variant of COL5A2 (Collagen alpha-2(V) chain)
E75K (p.Glu75Lys) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E75K (p.Glu75Lys) variant details
- p.Glu75Lys
- Ensembl rs867181051
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.11
- CADD 18.20
- PolyPhen-2 0.03
- SIFT 0.33
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available