W207C (p.Trp207Cys) variant of PPP2R5D (Q14738)
W207C (p.Trp207Cys) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
W207C (p.Trp207Cys) variant details
- p.Trp207Cys
- rs2150278805
- ClinGen CA364185493
- ClinVar RCV001808894
- ClinVar RCV003698871
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- AlphaMissense 1.00
- MetaLR 0.64
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in HJS1)
- UniProt: Pathogenic (in HJS1)
- Structural context available
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)