T280A (p.Thr280Ala) variant of CCND2 (G1/S-specific cyclin-D2)
T280A (p.Thr280Ala) in CCND2 (G1/S-specific cyclin-D2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T280A (p.Thr280Ala) variant details
- p.Thr280Ala
- rs587777618
- ClinGen CA170548
- NCI-TCGA Cosmic COSV5422
- ClinVar RCV000133495
- Pathogenic
- Inborn genetic diseases; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.76
- AlphaMissense 0.92
- MetaLR 0.08
- MetaSVM -1.08
- CADD 27.10
- PolyPhen-2 0.93
- ClinVar: Pathogenic (Inborn genetic diseases; Megalencephaly-polymicrogyria-polydacty)
- EBI: Pathogenic (in MPPH3)
- UniProt: Pathogenic (in MPPH3)
- Population evidence available
- Structural context available
- Cited in: De novo CCND2 mutations leading to stabilization of cyclin D2 cause… (PMID 24705253)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)