R31P (p.Arg31Pro) variant of SCN4A (Nav1.4)
R31P (p.Arg31Pro) in SCN4A (Nav1.4) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R31P (p.Arg31Pro) variant details
- p.Arg31Pro
- 1000Genomes rs112142736
- ESP rs112142736
- ExAC rs112142736
- TOPMed rs112142736
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.65
- CADD 25.10
- PolyPhen-2 0.90
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available