P281R (p.Pro281Arg) variant of CCND2 (G1/S-specific cyclin-D2)
P281R (p.Pro281Arg) in CCND2 (G1/S-specific cyclin-D2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of CCND2-related disorder; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P281R (p.Pro281Arg) variant details
- p.Pro281Arg
- rs587777622
- ClinGen CA170554
- ClinVar RCV000133499
- ClinVar RCV001384753
- Conflicting interpretations
- CCND2-related disorder; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.91
- MetaLR 0.29
- MetaSVM -0.34
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (CCND2-related disorder; Megalencephaly-polymicrogyria-polydactyl)
- EBI: Pathogenic (in MPPH3)
- UniProt: Pathogenic (in MPPH3)
- Most common in the REMAINING population (allele frequency 1.7e-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)