L90P (p.Leu90Pro) variant of GJB2 (Gap junction beta-2 protein)
L90P (p.Leu90Pro) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ichthyosis and erythrokeratoderma; Rare genetic deafness; Deafness. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
L90P (p.Leu90Pro) variant details
- p.Leu90Pro
- rs80338945
- ClinGen CA172219
- ClinVar RCV000018541
- ClinVar RCV000080369
- Pathogenic
- Ichthyosis and erythrokeratoderma; Rare genetic deafness; Deafness
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.98
- MetaLR 0.98
- MetaSVM 1.05
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Ichthyosis and erythrokeratoderma; Rare genetic deafness; Deafne)
- EBI: Pathogenic (in DFNB1A)
- UniProt: Pathogenic (in DFNB1A)
- Most common in the Non-Finnish European population (allele frequency 0.0012)
- Structural context available
- Cited in: High frequency hearing loss correlated with mutations in the GJB2 gene. (PMID 10830906)
- Cited in: Sensorineural hearing loss and the incidence of Cx26 mutations in Austria. (PMID 11313763)