P4R (p.Pro4Arg) variant of SCN10A (Nav1.8)
P4R (p.Pro4Arg) in SCN10A (Nav1.8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
P4R (p.Pro4Arg) variant details
- p.Pro4Arg
- rs781089009
- ClinGen CA352163558
- ClinVar RCV002347001
- ExAC rs781089009
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.38
- MetaLR 0.69
- MetaSVM 0.04
- CADD 20.40
- PolyPhen-2 0.17
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available