P53S (p.Pro53Ser) variant of PPP2R5D (Q14738)
P53S (p.Pro53Ser) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Houge-Janssens syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes published literature and structural context.
P53S (p.Pro53Ser) variant details
- p.Pro53Ser
- rs757369209
- ClinGen CA355020
- ClinVar RCV000201513
- UniProt VAR 069414
- Pathogenic
- Houge-Janssens syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- AlphaMissense 0.06
- MetaLR 0.02
- MetaSVM -1.03
- PolyPhen-2 0.01
- SIFT 0.26
- MutPred 0.27
- ClinVar: Pathogenic (Houge-Janssens syndrome 1)
- EBI: Pathogenic (in HJS1)
- UniProt: Pathogenic (in HJS1)
- Structural context available
- Cited in: B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. (PMID 26168268)
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)