A37S (p.Ala37Ser) variant of VPS13C (Q709C8)
A37S (p.Ala37Ser) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
A37S (p.Ala37Ser) variant details
- p.Ala37Ser
- ExAC rs761567232
- TOPMed rs761567232
- gnomAD rs761567232
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.46
- MetaSVM -0.04
- CADD 24.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available