S56S (p.Ser56Ser) variant of COL6A2 (Collagen alpha-2(VI) chain)
S56S (p.Ser56Ser) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S56S (p.Ser56Ser) variant details
- p.Ser56Ser
- rs749106470
- gnomAD 21-46112031-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 11.30
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available