E12V (p.Glu12Val) variant of VHL (P40337)
E12V (p.Glu12Val) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E12V (p.Glu12Val) variant details
- p.Glu12Val
- rs1380706798
- ClinGen CA351747133
- ClinVar RCV004016206
- TOPMed rs1380706798
- Uncertain significance
- Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.21
- AlphaMissense 0.08
- MetaLR 0.36
- MetaSVM -0.70
- CADD 14.60
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- 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)