K64T (p.Lys64Thr) variant of VPS13C (Q709C8)
K64T (p.Lys64Thr) in VPS13C (Q709C8) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
K64T (p.Lys64Thr) variant details
- p.Lys64Thr
- NCI-TCGA TCGA novel
- TOPMed rs903266148
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.65
- ESM-1b 0.91
- AlphaMissense 0.23
- MetaLR 0.64
- MetaSVM 0.36
- CADD 26.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available