P39A (p.Pro39Ala) variant of SCN1A (P35498)
P39A (p.Pro39Ala) in SCN1A (P35498) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- cosmic curated COSV57672
- TOPMed rs968754992
- gnomAD rs968754992
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.62
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available