F76C (p.Phe76Cys) variant of COL6A3 (Collagen alpha-3(VI) chain)
F76C (p.Phe76Cys) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
F76C (p.Phe76Cys) variant details
- p.Phe76Cys
- ExAC rs745613998
- TOPMed rs745613998
- gnomAD rs745613998
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.69
- MetaLR 0.48
- MetaSVM -0.50
- CADD 27.50
- PolyPhen-2 0.87
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available