H45Q (p.His45Gln) variant of VCAN (Versican core protein)
H45Q (p.His45Gln) 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 0.22 / 1. The record also includes population frequency data and structural context.
H45Q (p.His45Gln) variant details
- p.His45Gln
- rs369760896
- ClinGen CA3332399
- ClinVar RCV001968697
- ESP rs369760896
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.11
- CADD 23.30
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available