H19R (p.His19Arg) variant of VCAN (Versican core protein)
H19R (p.His19Arg) in VCAN (Versican core protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
H19R (p.His19Arg) variant details
- p.His19Arg
- ExAC rs781014698
- TOPMed rs781014698
- gnomAD rs781014698
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.17
- CADD 18.50
- PolyPhen-2 0.21
- SIFT 0.03
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available