C6W (p.Cys6Trp) variant of COL6A2 (Collagen alpha-2(VI) chain)
C6W (p.Cys6Trp) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
C6W (p.Cys6Trp) variant details
- p.Cys6Trp
- gnomAD 21-46111494-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.30
- CADD 13.50
- PolyPhen-2 0.06
- SIFT 0.13
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available