A121V (p.Ala121Val) variant of VPS13C (Q709C8)
A121V (p.Ala121Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A121V (p.Ala121Val) variant details
- p.Ala121Val
- gnomAD rs1364066923
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.19
- MetaSVM -0.76
- CADD 27.10
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available