Y96C (p.Tyr96Cys) variant of COL6A3 (Collagen alpha-3(VI) chain)
Y96C (p.Tyr96Cys) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Y96C (p.Tyr96Cys) variant details
- p.Tyr96Cys
- TOPMed rs2078396633
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.85
- MetaLR 0.66
- MetaSVM 0.50
- CADD 26.60
- PolyPhen-2 0.50
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available