A81V (p.Ala81Val) variant of VPS13C (Q709C8)
A81V (p.Ala81Val) in VPS13C (Q709C8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
A81V (p.Ala81Val) variant details
- p.Ala81Val
- rs151147947
- ClinGen CA7597625
- ClinVar RCV001931670
- ESP rs151147947
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.53
- ESM-1b 0.66
- AlphaMissense 0.42
- MetaLR 0.50
- MetaSVM 0.05
- CADD 29.70
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:HEZHEN population (allele frequency 0.062)
- Structural context available