S7Y (p.Ser7Tyr) variant of COL6A2 (Collagen alpha-2(VI) chain)
S7Y (p.Ser7Tyr) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S7Y (p.Ser7Tyr) variant details
- p.Ser7Tyr
- gnomAD 21-46111496-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.42
- CADD 3.94
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available