E6Q (p.Glu6Gln) variant of VHL (P40337)
E6Q (p.Glu6Gln) 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; Chuvash pol. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
E6Q (p.Glu6Gln) variant details
- p.Glu6Gln
- rs545406510
- ClinGen CA351747031
- ClinVar RCV002585053
- ClinVar RCV004009443
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Chuvash pol
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.15
- AlphaMissense 0.10
- MetaLR 0.33
- MetaSVM -0.73
- CADD 18.90
- PolyPhen-2 0.07
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- 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)