D63Y (p.Asp63Tyr) variant of VPS13C (Q709C8)
D63Y (p.Asp63Tyr) in VPS13C (Q709C8) 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.
D63Y (p.Asp63Tyr) variant details
- p.Asp63Tyr
- ExAC rs745369260
- gnomAD rs745369260
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.63
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.60
- MetaSVM 0.11
- CADD 34.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available