L90V (p.Leu90Val) variant of PMP22 (Peripheral myelin protein 22)
L90V (p.Leu90Val) in PMP22 (Peripheral myelin protein 22) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; Charcot-Marie-Tooth disease, type I; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L90V (p.Leu90Val) variant details
- p.Leu90Val
- rs147114400
- ClinGen CA8403375
- ClinVar RCV000796170
- ClinVar RCV002424823
- Benign/Likely benign
- Inborn genetic diseases; Charcot-Marie-Tooth disease, type I; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.62
- CADD 23.30
- PolyPhen-2 0.38
- SIFT 0.00
- ClinVar: Benign/Likely benign (Inborn genetic diseases; Charcot-Marie-Tooth disease, type I; no)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.0006)
- 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)