V20L (p.Val20Leu) variant of VHL (P40337)
V20L (p.Val20Leu) 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 0.38 / 1. The record also includes published literature and structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- rs2125124555
- ClinGen CA351747312
- ClinVar RCV002299580
- Ensembl rs2125124555
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- AlphaMissense 0.09
- MetaLR 0.28
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 0.15
- MutPred 0.15
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)