F39C (p.Phe39Cys) variant of COL6A1 (Collagen alpha-1(VI) chain)
F39C (p.Phe39Cys) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
F39C (p.Phe39Cys) variant details
- p.Phe39Cys
- TOPMed rs2077714599
- gnomAD rs2077714599
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.76
- CADD 33.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available