S27S (p.Ser27Ser) variant of COL6A2 (Collagen alpha-2(VI) chain)
S27S (p.Ser27Ser) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
S27S (p.Ser27Ser) variant details
- p.Ser27Ser
- rs111639540
- gnomAD 21-46111557-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0839
- CADD 0.46
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available