E34A (p.Glu34Ala) variant of PPP2R5D (Q14738)
E34A (p.Glu34Ala) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Houge-Janssens syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E34A (p.Glu34Ala) variant details
- p.Glu34Ala
- rs1241116131
- ClinGen CA364175108
- ClinVar RCV001336932
- ClinVar RCV001865856
- Uncertain significance
- not provided; Houge-Janssens syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.11
- MetaLR 0.07
- MetaSVM -1.11
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Houge-Janssens syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)