F76S (p.Phe76Ser) variant of COL6A3 (Collagen alpha-3(VI) chain)
F76S (p.Phe76Ser) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
F76S (p.Phe76Ser) variant details
- p.Phe76Ser
- ExAC rs745613998
- TOPMed rs745613998
- gnomAD rs745613998
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.63
- MetaLR 0.30
- MetaSVM -0.76
- CADD 24.70
- SIFT 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available