N131Y (p.Asn131Tyr) variant of VHL (P40337)
N131Y (p.Asn131Tyr) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
N131Y (p.Asn131Tyr) variant details
- p.Asn131Tyr
- rs2125128340
- ClinGen CA351753934
- NCI-TCGA Cosmic COSV5654
- ClinVar RCV002034406
- Likely pathogenic
- Chuvash polycythemia; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- AlphaMissense 0.91
- MetaLR 0.99
- MetaSVM 1.05
- PolyPhen-2 1.00
- EVE 0.64
- MutPred 0.80
- ClinVar: Likely pathogenic (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Likely pathogenic (in VHLD)
- UniProt: Likely pathogenic (in VHLD)
- 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)