K53K (p.Lys53Lys) variant of COL6A1 (Collagen alpha-1(VI) chain)
K53K (p.Lys53Lys) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K53K (p.Lys53Lys) variant details
- p.Lys53Lys
- rs529266588
- gnomAD 21-45982695-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 14.00
- Most common in the 1KG:GIH population (allele frequency 0.005)
- Structural context available
- Literature evidence available