C6Y (p.Cys6Tyr) variant of COL6A2 (Collagen alpha-2(VI) chain)
C6Y (p.Cys6Tyr) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
C6Y (p.Cys6Tyr) variant details
- p.Cys6Tyr
- gnomAD 21-46111493-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.27
- CADD 5.97
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available