R4W (p.Arg4Trp) variant of VHL (P40337)
R4W (p.Arg4Trp) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R4W (p.Arg4Trp) variant details
- p.Arg4Trp
- rs886057702
- ClinGen CA10614386
- ClinVar RCV000316395
- gnomAD rs886057702
- Uncertain significance
- Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.25
- MetaLR 0.42
- MetaSVM -0.53
- CADD 24.60
- PolyPhen-2 0.41
- SIFT 0.00
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Von Hippel-Lindau Syndrome. (PMID 20301636)