K531R (p.Lys531Arg) variant of GRIN1 (Q05586)
K531R (p.Lys531Arg) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neurodevelopmental disorder with or without hyperkinetic movements and seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K531R (p.Lys531Arg) variant details
- p.Lys531Arg
- rs2538634829
- ClinGen CA375717465
- ClinVar RCV003484216
- Likely pathogenic
- Neurodevelopmental disorder with or without hyperkinetic movements and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.25
- CADD 24.50
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Neurodevelopmental disorder with or without hyperkinetic movemen)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)