R18G (p.Arg18Gly) variant of SCN4A (Nav1.4)
R18G (p.Arg18Gly) 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 0.76 / 1. The record also includes population frequency data and structural context.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- 1000Genomes rs78592515
- ESP rs78592515
- ExAC rs78592515
- TOPMed rs78592515
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- REVEL 0.77
- CADD 24.00
- PolyPhen-2 0.42
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available