W207S (p.Trp207Ser) variant of PPP2R5D (Q14738)
W207S (p.Trp207Ser) 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; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
W207S (p.Trp207Ser) variant details
- p.Trp207Ser
- rs2150278804
- ClinGen CA364185490
- ClinVar RCV002250261
- ClinVar RCV005095828
- Conflicting interpretations
- Houge-Janssens syndrome 1; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- AlphaMissense 1.00
- MetaLR 0.70
- MetaSVM 0.65
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Conflicting classifications of pathogenicity (Houge-Janssens syndrome 1; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in HJS1)
- UniProt: Pathogenic (in HJS1)
- 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)