H19Q (p.His19Gln) variant of VCAN (Versican core protein)
H19Q (p.His19Gln) 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 0.12 / 1. The record also includes population frequency data and structural context.
H19Q (p.His19Gln) variant details
- p.His19Gln
- rs1561225260
- Ensembl rs1561225260
- ClinGen CA360293218
- ClinVar RCV003059536
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.07
- CADD 16.10
- PolyPhen-2 0.04
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available