P35H (p.Pro35His) variant of SCN9A (Q15858)
P35H (p.Pro35His) 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 0.47 / 1. The record also includes population frequency data and structural context.
P35H (p.Pro35His) variant details
- p.Pro35His
- rs1367983811
- NCI-TCGA Cosmic COSV5760
- cosmic curated COSV57604
- TOPMed rs1367983811
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- MetaLR 0.85
- MetaSVM 0.20
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available