N131K (p.Asn131Lys) variant of VHL (P40337)
N131K (p.Asn131Lys) 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 0.89 / 1. The record also includes published literature and structural context.
N131K (p.Asn131Lys) variant details
- p.Asn131Lys
- rs1064794272
- NCI-TCGA Cosmic COSV5654
- Ensembl rs1064794272
- Pathogenic/Likely pathogenic
- Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- EVE 0.61
- MutPred 0.85
- ClinVar: Pathogenic/Likely pathogenic (Chuvash polycythemia; Von Hippel-Lindau syndrome; not provided)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- 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)