P11L (p.Pro11Leu) variant of SCN1A (P35498)
P11L (p.Pro11Leu) 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 0.77 / 1. The record also includes population frequency data and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- TOPMed rs1350460260
- gnomAD rs1350460260
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- CADD 26.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available