S46F (p.Ser46Phe) variant of PMP22 (Peripheral myelin protein 22)
S46F (p.Ser46Phe) in PMP22 (Peripheral myelin protein 22) 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 0.32 / 1. The record also includes population frequency data and structural context.
S46F (p.Ser46Phe) variant details
- p.Ser46Phe
- NCI-TCGA Cosmic COSV5660
- cosmic curated COSV56602
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.28
- CADD 16.30
- PolyPhen-2 0.06
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available