R4K (p.Arg4Lys) variant of VHL (P40337)
R4K (p.Arg4Lys) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R4K (p.Arg4Lys) variant details
- p.Arg4Lys
- rs886057703
- ClinGen CA351747022
- ClinVar RCV004520895
- ClinVar RCV006551186
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.19
- MetaLR 0.24
- MetaSVM -0.89
- CADD 11.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)