L80V (p.Leu80Val) variant of PMP22 (Peripheral myelin protein 22)
L80V (p.Leu80Val) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
L80V (p.Leu80Val) variant details
- p.Leu80Val
- rs773201903
- ClinGen CA8403379
- ClinVar RCV002459555
- ExAC rs773201903
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.69
- CADD 23.40
- PolyPhen-2 0.97
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance (in DSS)
- UniProt: Uncertain significance (in DSS)
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)