R161Q (p.Arg161Gln) variant of VHL (P40337)
R161Q (p.Arg161Gln) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; Inherited phaeochromocytoma an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
R161Q (p.Arg161Gln) variant details
- p.Arg161Gln
- rs730882035
- ClinGen CA020413
- NCI-TCGA Cosmic COSV1043
- NCI-TCGA Cosmic COSV5654
- Pathogenic
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Inherited phaeochromocytoma an
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- REVEL 0.80
- MetaLR 0.99
- MetaSVM 1.00
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic (Chuvash polycythemia; Von Hippel-Lindau syndrome; Inherited phae)
- EBI: Pathogenic (in PCC and VHLD)
- UniProt: Pathogenic (in PCC and VHLD)
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: Germ-line mutations in nonsyndromic pheochromocytoma. (PMID 12000816)
- Cited in: Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. (PMID 9829912)