K40K (p.Lys40Lys) variant of COL6A2 (Collagen alpha-2(VI) chain)
K40K (p.Lys40Lys) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K40K (p.Lys40Lys) variant details
- p.Lys40Lys
- rs200025682
- gnomAD 21-46111983-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 5.12
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available