A10T (p.Ala10Thr) variant of CDK4 (Cyclin-dependent kinase 4)
A10T (p.Ala10Thr) 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 0.37 / 1. The record also includes published literature and structural context.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- rs1955239777
- ClinGen CA385549215
- ClinVar RCV001235739
- Ensembl rs1955239777
- Uncertain significance
- Familial melanoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- AlphaMissense 0.95
- MetaLR 0.16
- MetaSVM -0.85
- PolyPhen-2 0.98
- SIFT 0.17
- MutPred 0.54
- 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)