D28V (p.Asp28Val) variant of VHL (P40337)
D28V (p.Asp28Val) 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.
D28V (p.Asp28Val) variant details
- p.Asp28Val
- rs2125124629
- ClinGen CA351747502
- cosmic curated COSV56570
- ClinVar RCV001910005
- Uncertain significance
- Chuvash polycythemia; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- AlphaMissense 0.05
- MetaLR 0.24
- MetaSVM -0.82
- PolyPhen-2 0.00
- SIFT 0.70
- MutPred 0.28
- ClinVar: Uncertain significance (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- 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)