P557R (p.Pro557Arg) variant of GRIN1 (Q05586)
P557R (p.Pro557Arg) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Intellectual disability; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes published literature and structural context.
P557R (p.Pro557Arg) variant details
- p.Pro557Arg
- rs878853143
- Pathogenic
- Intellectual disability; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- AlphaMissense 1.00
- MetaLR 0.22
- MetaSVM -0.32
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.89
- ClinVar: Pathogenic (Intellectual disability; not provided)
- UniProt: Pathogenic (in NDHMSD)
- Structural context available
- Cited in: Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing. (PMID 25167861)
- Cited in: Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. (PMID 27164704)