R253P (p.Arg253Pro) variant of PPP2R5D (Q14738)
R253P (p.Arg253Pro) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Neurodevelopmental abnormality; Houge-Janssens syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes published literature and structural context.
R253P (p.Arg253Pro) variant details
- p.Arg253Pro
- rs1131691266
- ClinGen CA364189195
- ClinVar RCV001265316
- ClinVar RCV001552427
- Pathogenic/Likely pathogenic
- Neurodevelopmental abnormality; Houge-Janssens syndrome 1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- AlphaMissense 0.99
- MetaLR 0.46
- MetaSVM 0.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.91
- ClinVar: Pathogenic/Likely pathogenic (Neurodevelopmental abnormality; Houge-Janssens syndrome 1; not p)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)