E31K (p.Glu31Lys) variant of COL5A2 (Collagen alpha-2(V) chain)
E31K (p.Glu31Lys) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- TOPMed rs1377033087
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.35
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available