H19P (p.His19Pro) variant of VCAN (Versican core protein)
H19P (p.His19Pro) in VCAN (Versican core protein) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H19P (p.His19Pro) variant details
- p.His19Pro
- ExAC rs781014698
- TOPMed rs781014698
- gnomAD rs781014698
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.31
- CADD 22.80
- PolyPhen-2 0.62
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available