R63H (p.Arg63His) variant of VCAN (Versican core protein)
R63H (p.Arg63His) in VCAN (Versican core protein) is a missense change. Clinical records from ClinVar, EBI, 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 0.68 / 1. The record also includes population frequency data and structural context.
R63H (p.Arg63His) variant details
- p.Arg63His
- rs142148754
- ClinGen CA3332410
- cosmic curated COSV54104
- ClinVar RCV001979666
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.58
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available