W8L (p.Trp8Leu) variant of VHL (P40337)
W8L (p.Trp8Leu) 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; Chuvash polycythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
W8L (p.Trp8Leu) variant details
- p.Trp8Leu
- rs1060503551
- ClinGen CA351747063
- ClinVar RCV001205122
- Ensembl rs1060503551
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.18
- AlphaMissense 0.09
- MetaLR 0.32
- MetaSVM -0.77
- CADD 7.55
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Chuvash polycythemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)