G34S (p.Gly34Ser) variant of CDKN1B (P46527)
G34S (p.Gly34Ser) in CDKN1B (P46527) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
G34S (p.Gly34Ser) variant details
- p.Gly34Ser
- rs1946488422
- ClinGen CA383968577
- ClinVar RCV001067938
- Ensembl rs1946488422
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Multiple endocrine neoplasia type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 1.00
- MetaLR 0.82
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Multiple endocrine neop)
- 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)