P281S (p.Pro281Ser) variant of CCND2 (G1/S-specific cyclin-D2)
P281S (p.Pro281Ser) 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 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P281S (p.Pro281Ser) variant details
- p.Pro281Ser
- rs587777621
- ClinGen CA170552
- NCI-TCGA Cosmic COSV5422
- Pathogenic/Likely pathogenic
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.87
- MetaLR 0.23
- MetaSVM -0.57
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome)
- EBI: Pathogenic (in MPPH3)
- UniProt: Pathogenic (in MPPH3)
- Most common in the African/African-American population (allele frequency 2.4e-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)