H38Y (p.His38Tyr) variant of CDKN1B (P46527)
H38Y (p.His38Tyr) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple endocrine neoplasia type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
H38Y (p.His38Tyr) variant details
- p.His38Tyr
- rs1592280791
- ClinGen CA383968696
- ClinVar RCV000804681
- Ensembl rs1592280791
- Uncertain significance
- Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- AlphaMissense 0.83
- MetaLR 0.79
- MetaSVM 0.76
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)
- Cited in: Genetics of Endocrine and Neuroendocrine Neoplasias (PDQ®): Health Professional Version. (PMID 26389271)