D197A (p.Asp197Ala) variant of VHL (P40337)
D197A (p.Asp197Ala) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
D197A (p.Asp197Ala) variant details
- p.Asp197Ala
- rs752940316
- ClinGen CA041749
- ClinVar RCV000806798
- ClinVar RCV004569637
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary cancer-predisposing
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.94
- MetaLR 0.99
- MetaSVM 0.99
- CADD 29.30
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome; Hereditary can)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)