K145M (p.Lys145Met) variant of PPP2R5D (Q14738)
K145M (p.Lys145Met) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Houge-Janssens syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature and structural context.
K145M (p.Lys145Met) variant details
- p.Lys145Met
- rs2150278470
- ClinGen CA364183120
- ClinVar RCV002250259
- Ensembl rs2150278470
- Pathogenic
- Houge-Janssens syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 1.00
- MetaLR 0.65
- MetaSVM 0.62
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic (Houge-Janssens syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)