H131Y (p.His131Tyr) variant of VPS13C (Q709C8)
H131Y (p.His131Tyr) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H131Y (p.His131Tyr) variant details
- p.His131Tyr
- ExAC rs749379164
- TOPMed rs749379164
- gnomAD rs749379164
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.02
- CADD 21.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available