P149A (p.Pro149Ala) variant of VPS13C (Q709C8)
P149A (p.Pro149Ala) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes structural context.
P149A (p.Pro149Ala) variant details
- p.Pro149Ala
- Ensembl rs2047706848
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.06
- MetaSVM -1.04
- CADD 22.30
- Structural context available