L71Q (p.Leu71Gln) variant of PMP22 (Peripheral myelin protein 22)
L71Q (p.Leu71Gln) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
L71Q (p.Leu71Gln) variant details
- p.Leu71Gln
- rs940401899
- ClinGen CA288098392
- ClinVar RCV003581256
- ClinVar RCV005707174
- Uncertain significance
- Inborn genetic diseases; Charcot-Marie-Tooth disease, type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- REVEL 0.97
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.95
- CADD 28.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Charcot-Marie-Tooth disease, type I)
- EBI: Variant of uncertain significance (in DSS)
- UniProt: Uncertain significance (in DSS)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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)