T280I (p.Thr280Ile) variant of CCND2 (G1/S-specific cyclin-D2)
T280I (p.Thr280Ile) 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 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
T280I (p.Thr280Ile) variant details
- p.Thr280Ile
- rs587777620
- ClinGen CA6395339
- ClinVar RCV000824980
- ClinVar RCV002282386
- Pathogenic/Likely pathogenic
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.61
- MetaLR 0.13
- MetaSVM -0.80
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Pathogenic (in MPPH3)
- UniProt: Pathogenic (in MPPH3)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: MPPH Syndrome. (PMID 27854409)