I12T (p.Ile12Thr) variant of CDK4 (Cyclin-dependent kinase 4)
I12T (p.Ile12Thr) in CDK4 (Cyclin-dependent kinase 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial melanoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
I12T (p.Ile12Thr) variant details
- p.Ile12Thr
- rs2140388721
- ClinGen CA385549150
- ClinVar RCV003746134
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- AlphaMissense 0.93
- MetaLR 0.40
- MetaSVM -0.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.82
- ClinVar: Uncertain significance (Familial melanoma)
- 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 Skin Cancer (PDQ®): Health Professional Version. (PMID 26389333)