N56K (p.Asn56Lys) variant of PPP2R5D (Q14738)
N56K (p.Asn56Lys) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Houge-Janssens syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
N56K (p.Asn56Lys) variant details
- p.Asn56Lys
- rs745843787
- ClinGen CA3811767
- ClinVar RCV003493140
- ExAC rs745843787
- Uncertain significance
- Houge-Janssens syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- AlphaMissense 0.51
- MetaLR 0.03
- MetaSVM -1.07
- PolyPhen-2 0.22
- SIFT 0.76
- MutPred 0.24
- ClinVar: Uncertain significance (Houge-Janssens syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: PPP2R5D-Related Neurodevelopmental Disorder. (PMID 30676711)