A125V (p.Ala125Val) variant of VPS13C (Q709C8)
A125V (p.Ala125Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A125V (p.Ala125Val) variant details
- p.Ala125Val
- gnomAD rs1188944233
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.10
- MetaSVM -1.02
- CADD 24.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available