S64F (p.Ser64Phe) variant of PMP22 (Peripheral myelin protein 22)
S64F (p.Ser64Phe) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease, type I; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
S64F (p.Ser64Phe) variant details
- p.Ser64Phe
- rs1311837830
- ClinGen CA398268383
- ClinVar RCV001909184
- ClinVar RCV004042590
- Uncertain significance
- Charcot-Marie-Tooth disease, type I; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.78
- CADD 29.40
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease, type I; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)