S10T (p.Ser10Thr) variant of CDKN1B (P46527)
S10T (p.Ser10Thr) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
S10T (p.Ser10Thr) variant details
- p.Ser10Thr
- rs1555085482
- ClinGen CA383968022
- ClinVar RCV001058315
- ClinVar RCV003153914
- Uncertain significance
- Multiple endocrine neoplasia type 4; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- AlphaMissense 0.91
- MetaLR 0.71
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.13
- ClinVar: Uncertain significance (Multiple endocrine neoplasia type 4; not provided)
- 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)