S47L (p.Ser47Leu) variant of PMP22 (Peripheral myelin protein 22)
S47L (p.Ser47Leu) 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 0.29 / 1. The record also includes population frequency data and structural context.
S47L (p.Ser47Leu) variant details
- p.Ser47Leu
- rs1213064078
- NCI-TCGA Cosmic COSV5660
- cosmic curated COSV56603
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.17
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available