P11L (p.Pro11Leu) variant of SCN8A (Q9UQD0)
P11L (p.Pro11Leu) in SCN8A (Q9UQD0) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- rs745556675
- ExAC rs745556675
- gnomAD rs745556675
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.81
- ESM-1b 1.00
- AlphaMissense 0.40
- MetaLR 0.94
- MetaSVM 1.08
- CADD 26.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:JAPANESE population (allele frequency 1)
- Structural context available