D121G (p.Asp121Gly) variant of VHL (P40337)
D121G (p.Asp121Gly) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D121G (p.Asp121Gly) variant details
- p.Asp121Gly
- rs5030832
- ClinGen CA357083
- ClinVar RCV000208830
- ClinVar RCV000679035
- Pathogenic/Likely pathogenic
- Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.91
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.03
- CADD 28.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Von Hippel-Lindau syndrome; Chuvash polycythemia; Hereditary can)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. (PMID 8956040)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)