D251A (p.Asp251Ala) variant of PPP2R5D (Q14738)
D251A (p.Asp251Ala) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Seizure; Houge-Janssens syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
D251A (p.Asp251Ala) variant details
- p.Asp251Ala
- rs1064794719
- ClinGen CA364189066
- ClinVar RCV000624493
- ClinVar RCV001249666
- Pathogenic
- Inborn genetic diseases; Seizure; Houge-Janssens syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- AlphaMissense 1.00
- MetaLR 0.53
- MetaSVM 0.35
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.94
- ClinVar: Pathogenic (Inborn genetic diseases; Seizure; Houge-Janssens syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)