E7K (p.Glu7Lys) variant of COL5A2 (Collagen alpha-2(V) chain)
E7K (p.Glu7Lys) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E7K (p.Glu7Lys) variant details
- p.Glu7Lys
- gnomAD rs1688745316
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.29
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.59
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available