I31V (p.Ile31Val) variant of VPS13C (Q709C8)
I31V (p.Ile31Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
I31V (p.Ile31Val) variant details
- p.Ile31Val
- ExAC rs780395971
- gnomAD rs780395971
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.42
- ESM-1b 0.57
- AlphaMissense 0.40
- MetaLR 0.52
- MetaSVM 0.05
- CADD 25.30
- Most common in the South Asian population (allele frequency 4.7e-05)
- Structural context available