P154R (p.Pro154Arg) variant of VHL (P40337)
P154R (p.Pro154Arg) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P154R (p.Pro154Arg) variant details
- p.Pro154Arg
- rs1399097617
- ClinGen CA351754408
- ClinVar RCV000679041
- ClinVar RCV000698100
- Uncertain significance
- Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.94
- MetaLR 0.99
- MetaSVM 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.10
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)