P18R (p.Pro18Arg) variant of SCN10A (Q9Y5Y9)
P18R (p.Pro18Arg) in SCN10A (Q9Y5Y9) 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 0.51 / 1. The record also includes population frequency data and structural context.
P18R (p.Pro18Arg) variant details
- p.Pro18Arg
- rs190176472
- ClinGen CA352163378
- ClinVar RCV002347251
- 1000Genomes rs190176472
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.42
- MetaLR 0.67
- MetaSVM 0.05
- CADD 20.30
- PolyPhen-2 0.81
- SIFT 0.50
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available