S54S (p.Ser54Ser) variant of COL6A2 (Collagen alpha-2(VI) chain)
S54S (p.Ser54Ser) in COL6A2 (Collagen alpha-2(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.
S54S (p.Ser54Ser) variant details
- p.Ser54Ser
- rs780123839
- gnomAD 21-46112025-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.59
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available