F20L (p.Phe20Leu) variant of PMP22 (Peripheral myelin protein 22)
F20L (p.Phe20Leu) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
F20L (p.Phe20Leu) variant details
- p.Phe20Leu
- rs1436741083
- ClinGen CA398271685
- ClinVar RCV002360138
- gnomAD rs1436741083
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.40
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.11
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)