P58Q (p.Pro58Gln) variant of PMP22 (Peripheral myelin protein 22)
P58Q (p.Pro58Gln) 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; Charcot-Marie-Tooth disease, type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P58Q (p.Pro58Gln) variant details
- p.Pro58Gln
- rs745939923
- ClinGen CA8403418
- ClinVar RCV000688100
- ClinVar RCV005702288
- Uncertain significance
- Inborn genetic diseases; Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.09
- CADD 9.67
- PolyPhen-2 0.11
- SIFT 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases; Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)