Y112N (p.Tyr112Asn) variant of VHL (P40337)
Y112N (p.Tyr112Asn) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Chuvash polycythemia; Von Hippel-Lindau syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
Y112N (p.Tyr112Asn) variant details
- p.Tyr112Asn
- rs104893824
- ClinGen CA020273
- NCI-TCGA Cosmic COSV5654
- ClinVar RCV000002316
- Pathogenic
- Chuvash polycythemia; Von Hippel-Lindau syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.04
- EVE 0.53
- ClinVar: Pathogenic (Chuvash polycythemia; Von Hippel-Lindau syndrome)
- EBI: Pathogenic (in VHLD)
- UniProt: Pathogenic (in VHLD)
- Structural context available
- Cited in: Two distinct phenotypes caused by two different missense mutations in the same codon of the VHL gene. (PMID 10533030)
- Cited in: Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. (PMID 8863170)