D251V (p.Asp251Val) variant of PPP2R5D (Q14738)
D251V (p.Asp251Val) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Houge-Janssens syndrome 1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes published literature and structural context.
D251V (p.Asp251Val) variant details
- p.Asp251Val
- rs1064794719
- ClinGen CA16618288
- ClinVar RCV000481705
- ClinVar RCV001169914
- Conflicting interpretations
- Houge-Janssens syndrome 1; not provided
- 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: Conflicting classifications of pathogenicity (Houge-Janssens syndrome 1; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)