P6L (p.Pro6Leu) variant of SCN9A (Q15858)
P6L (p.Pro6Leu) in SCN9A (Q15858) 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 0.70 / 1. The record also includes population frequency data and structural context.
P6L (p.Pro6Leu) variant details
- p.Pro6Leu
- NCI-TCGA Cosmic COSV5761
- cosmic curated COSV57619
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- MetaLR 0.94
- MetaSVM 1.06
- CADD 24.50
- PolyPhen-2 0.22
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available