R107G (p.Arg107Gly) variant of VHL (P40337)
R107G (p.Arg107Gly) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Pheochromocytoma; Von Hippel-Lindau syndrome; Chuvash polycythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
R107G (p.Arg107Gly) variant details
- p.Arg107Gly
- rs397516440
- ClinGen CA020257
- cosmic curated COSV56548
- ClinVar RCV000036542
- Pathogenic/Likely pathogenic
- Pheochromocytoma; Von Hippel-Lindau syndrome; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- AlphaMissense 0.47
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.45
- ClinVar: Pathogenic/Likely pathogenic (Pheochromocytoma; Von Hippel-Lindau syndrome; Chuvash polycythem)
- EBI: Pathogenic (in PCC)
- UniProt: Pathogenic (in PCC)
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)