S106T (p.Ser106Thr) variant of VPS13C (Q709C8)
S106T (p.Ser106Thr) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S106T (p.Ser106Thr) variant details
- p.Ser106Thr
- TOPMed rs1290000637
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.33
- MetaSVM -0.75
- CADD 19.68
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available