H22R (p.His22Arg) variant of VCAN (Versican core protein)
H22R (p.His22Arg) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
H22R (p.His22Arg) variant details
- p.His22Arg
- gnomAD 5-83483583-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0666
- REVEL 0.04
- CADD 3.15
- PolyPhen-2 0.01
- SIFT 0.43
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available