V284E (p.Val284Glu) variant of CCND2 (G1/S-specific cyclin-D2)
V284E (p.Val284Glu) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
V284E (p.Val284Glu) variant details
- p.Val284Glu
- rs777786993
- ClinGen CA383413803
- ClinVar RCV001817747
- ClinVar RCV003493877
- Pathogenic/Likely pathogenic
- not provided; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- AlphaMissense 0.98
- MetaLR 0.12
- MetaSVM -0.88
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.39
- 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)