P79A (p.Pro79Ala) variant of SCN4A (Nav1.4)
P79A (p.Pro79Ala) in SCN4A (Nav1.4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P79A (p.Pro79Ala) variant details
- p.Pro79Ala
- 1000Genomes rs376505442
- ESP rs376505442
- ExAC rs376505442
- TOPMed rs376505442
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.73
- CADD 23.00
- PolyPhen-2 0.09
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available