P5L (p.Pro5Leu) variant of SCN9A (Nav1.7)
P5L (p.Pro5Leu) in SCN9A (Nav1.7) 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 0.59 / 1. The record also includes population frequency data and structural context.
P5L (p.Pro5Leu) variant details
- p.Pro5Leu
- NCI-TCGA Cosmic COSV5761
- cosmic curated COSV57612
- NCI-TCGA Cosmic COSV5762
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- MetaLR 0.59
- MetaSVM -0.18
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available