E77K (p.Glu77Lys) variant of VPS13C (Q709C8)
E77K (p.Glu77Lys) 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 0.63 / 1. The record also includes population frequency data and structural context.
E77K (p.Glu77Lys) variant details
- p.Glu77Lys
- rs202047135
- NCI-TCGA Cosmic COSV5113
- cosmic curated COSV51137
- 1000Genomes rs202047135
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.44
- MetaLR 0.52
- MetaSVM 0.10
- CADD 28.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available