S7S (p.Ser7Ser) variant of COL6A2 (Collagen alpha-2(VI) chain)
S7S (p.Ser7Ser) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
S7S (p.Ser7Ser) variant details
- p.Ser7Ser
- rs760481395
- gnomAD 21-46111497-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0948
- CADD 2.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available