C15Y (p.Cys15Tyr) variant of COL6A1 (Collagen alpha-1(VI) chain)
C15Y (p.Cys15Tyr) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
C15Y (p.Cys15Tyr) variant details
- p.Cys15Tyr
- gnomAD 21-45981894-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.43
- MetaLR 0.46
- MetaSVM -0.31
- CADD 22.00
- PolyPhen-2 0.45
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available