S47R (p.Ser47Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
S47R (p.Ser47Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S47R (p.Ser47Arg) variant details
- p.Ser47Arg
- rs1415065984
- gnomAD 21-45982670-CTG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.834
- CADD 33.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available