F83L (p.Phe83Leu) variant of PMP22 (Peripheral myelin protein 22)
F83L (p.Phe83Leu) 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 0.64 / 1. The record also includes population frequency data and structural context.
F83L (p.Phe83Leu) variant details
- p.Phe83Leu
- cosmic curated COSV56601
- Ensembl rs1429141312
- NCI-TCGA Cosmic COSV5660
- cosmic curated COSV56603
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.80
- CADD 27.20
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available