P154S (p.Pro154Ser) variant of VHL (P40337)
P154S (p.Pro154Ser) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau. 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.
P154S (p.Pro154Ser) variant details
- p.Pro154Ser
- rs1553619993
- ClinGen CA351754405
- ClinVar RCV000566330
- ClinVar RCV001046833
- Pathogenic/Likely pathogenic
- Hereditary cancer-predisposing syndrome; Chuvash polycythemia; Von Hippel-Lindau
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.97
- MetaLR 0.99
- MetaSVM 0.97
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Hereditary cancer-predisposing syndrome; Chuvash polycythemia; V)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Most common in the Non-Finnish European population (allele frequency 5.8e-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)