S67C (p.Ser67Cys) variant of VCAN (Versican core protein)
S67C (p.Ser67Cys) 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 0.58 / 1. The record also includes population frequency data and structural context.
S67C (p.Ser67Cys) variant details
- p.Ser67Cys
- cosmic curated COSV99426
- gnomAD rs1224614164
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.584
- REVEL 0.44
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available