D251Y (p.Asp251Tyr) variant of PPP2R5D (Q14738)
D251Y (p.Asp251Tyr) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Neurodevelopmental disorder; Houge-Janssens syndrome 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
D251Y (p.Asp251Tyr) variant details
- p.Asp251Tyr
- rs1762178916
- ClinGen CA364189058
- ClinVar RCV001266286
- ClinVar RCV001550149
- Conflicting interpretations
- Neurodevelopmental disorder; Houge-Janssens syndrome 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Conflicting classifications of pathogenicity (Neurodevelopmental disorder; Houge-Janssens syndrome 1; Inborn g)
- 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)