H45R (p.His45Arg) variant of VCAN (Versican core protein)
H45R (p.His45Arg) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H45R (p.His45Arg) variant details
- p.His45Arg
- gnomAD 5-83490161-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.12
- CADD 22.70
- PolyPhen-2 0.57
- SIFT 0.10
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available