P8L (p.Pro8Leu) variant of SCN1A (P35498)
P8L (p.Pro8Leu) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P8L (p.Pro8Leu) variant details
- p.Pro8Leu
- rs1365133608
- ClinGen CA349243472
- ClinVar RCV003235841
- TOPMed rs1365133608
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available