L88V (p.Leu88Val) variant of VPS13C (Q709C8)
L88V (p.Leu88Val) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
L88V (p.Leu88Val) variant details
- p.Leu88Val
- cosmic curated COSV10584
- ExAC rs762151117
- gnomAD rs762151117
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.52
- ESM-1b 0.58
- AlphaMissense 0.08
- MetaLR 0.60
- MetaSVM 0.28
- CADD 26.00
- Most common in the East Asian population (allele frequency 0.00096)
- Structural context available