K6M (p.Lys6Met) variant of VCAN (Versican core protein)
K6M (p.Lys6Met) in VCAN (Versican core protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
K6M (p.Lys6Met) variant details
- p.Lys6Met
- TOPMed rs1440057378
- gnomAD rs1440057378
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.44
- CADD 26.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available