S47S (p.Ser47Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
S47S (p.Ser47Ser) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S47S (p.Ser47Ser) variant details
- p.Ser47Ser
- rs2123460208
- gnomAD 21-45982677-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.48
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available