L163R (p.Leu163Arg) variant of VHL (P40337)
L163R (p.Leu163Arg) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes published literature and structural context.
L163R (p.Leu163Arg) variant details
- p.Leu163Arg
- rs28940297
- ClinGen CA16611277
- cosmic curated COSV56561
- ClinVar RCV000474133
- Pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.963
- MutPred 0.96
- ClinVar: Pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia)
- EBI: Pathogenic (in RCC)
- UniProt: Pathogenic (in RCC)
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)