Y23N (p.Tyr23Asn) variant of VHL (P40337)
Y23N (p.Tyr23Asn) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Von Hippel-Lindau syndrome; Chuvash polycythemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
Y23N (p.Tyr23Asn) variant details
- p.Tyr23Asn
- rs1696118253
- ClinGen CA351747386
- ClinVar RCV003815467
- Ensembl rs1696118253
- Uncertain significance
- Von Hippel-Lindau syndrome; Chuvash polycythemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.09
- MetaLR 0.33
- MetaSVM -0.73
- PolyPhen-2 0.00
- SIFT 0.01
- MutPred 0.39
- ClinVar: Uncertain significance (Von Hippel-Lindau syndrome; Chuvash polycythemia)
- 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)