P81L (p.Pro81Leu) variant of VHL (P40337)
P81L (p.Pro81Leu) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inherited phaeochromocytoma and paraganglioma excluding NF1; Chuvash polycythemi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- rs193922608
- ClinGen CA020154
- cosmic curated COSV56546
- ClinVar RCV000030582
- Pathogenic/Likely pathogenic
- Inherited phaeochromocytoma and paraganglioma excluding NF1; Chuvash polycythemi
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.72
- MetaLR 0.98
- MetaSVM 1.14
- CADD 26.10
- PolyPhen-2 0.58
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Inherited phaeochromocytoma and paraganglioma excluding NF1; Chu)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Most common in the South Asian population (allele frequency 0.00044)
- 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)