P281L (p.Pro281Leu) variant of CCND2 (G1/S-specific cyclin-D2)
P281L (p.Pro281Leu) 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 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P281L (p.Pro281Leu) variant details
- p.Pro281Leu
- rs587777622
- ClinGen CA170555
- ClinVar RCV000133500
- UniProt VAR 072372
- Pathogenic
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.89
- MetaLR 0.25
- MetaSVM -0.44
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Pathogenic (in MPPH3)
- UniProt: Pathogenic (in MPPH3)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: De novo CCND2 mutations leading to stabilization of cyclin D2 cause… (PMID 24705253)
- Cited in: MPPH Syndrome. (PMID 27854409)