E55K (p.Glu55Lys) variant of COL6A2 (Collagen alpha-2(VI) chain)
E55K (p.Glu55Lys) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
E55K (p.Glu55Lys) variant details
- p.Glu55Lys
- gnomAD 21-46112026-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.777
- REVEL 0.75
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Literature evidence available