F136S (p.Phe136Ser) variant of VHL (P40337)
F136S (p.Phe136Ser) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
F136S (p.Phe136Ser) variant details
- p.Phe136Ser
- rs5030833
- ClinGen CA040847
- NCI-TCGA Cosmic COSV5654
- NCI-TCGA Cosmic COSV5655
- Pathogenic/Likely pathogenic
- Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- AlphaMissense 0.70
- MetaLR 0.93
- MetaSVM 0.98
- PolyPhen-2 0.40
- EVE 0.14
- MutPred 0.91
- ClinVar: Pathogenic/Likely pathogenic (Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Population evidence available
- Structural context available
- Cited in: Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. (PMID 9829912)
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)