G19V (p.Gly19Val) variant of VHL (P40337)
G19V (p.Gly19Val) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- rs2125124549
- ClinGen CA351747296
- ClinVar RCV001969825
- ClinVar RCV003892994
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.17
- MetaLR 0.33
- MetaSVM -0.75
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)