R51S (p.Arg51Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
R51S (p.Arg51Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R51S (p.Arg51Ser) variant details
- p.Arg51Ser
- gnomAD 21-45982687-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available