T280P (p.Thr280Pro) variant of CCND2 (G1/S-specific cyclin-D2)
T280P (p.Thr280Pro) in CCND2 (G1/S-specific cyclin-D2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
T280P (p.Thr280Pro) variant details
- p.Thr280Pro
- rs587777618
- ClinVar RCV004594733
- ClinVar RCV006631137
- Pathogenic/Likely pathogenic
- not provided; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- AlphaMissense 0.92
- MetaLR 0.08
- MetaSVM -1.08
- PolyPhen-2 0.93
- SIFT 0.01
- MutPred 0.56
- ClinVar: Pathogenic/Likely pathogenic (not provided; Megalencephaly-polymicrogyria-polydactyly-hydrocep)
- EBI: Pathogenic (in MPPH3)
- UniProt: Pathogenic (in MPPH3)
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)