A37T (p.Ala37Thr) variant of VPS13C (Q709C8)
A37T (p.Ala37Thr) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A37T (p.Ala37Thr) variant details
- p.Ala37Thr
- ExAC rs761567232
- TOPMed rs761567232
- gnomAD rs761567232
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.45
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.53
- MetaSVM 0.15
- CADD 26.40
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available