T130A (p.Thr130Ala) variant of VPS13C (Q709C8)
T130A (p.Thr130Ala) in VPS13C (Q709C8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
T130A (p.Thr130Ala) variant details
- p.Thr130Ala
- Ensembl rs2047709217
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.04
- MetaSVM -1.01
- CADD 10.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available