P65S (p.Pro65Ser) variant of SCN4A (Nav1.4)
P65S (p.Pro65Ser) in SCN4A (Nav1.4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P65S (p.Pro65Ser) variant details
- p.Pro65Ser
- Ensembl rs1909652066
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.87
- CADD 25.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available