M555I (p.Met555Ile) variant of GRIN1 (Q05586)
M555I (p.Met555Ile) in GRIN1 (Q05586) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M555I (p.Met555Ile) variant details
- p.Met555Ile
- rs2538636884
- ClinGen CA375717694
- ClinVar RCV002302855
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.36
- CADD 25.00
- PolyPhen-2 0.53
- SIFT 0.06
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)