P805L (p.Pro805Leu) variant of GRIN1 (Q05586)
P805L (p.Pro805Leu) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Neurodevelopmental disorder with or without hyperkinetic movements. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
P805L (p.Pro805Leu) variant details
- p.Pro805Leu
- rs1588735247
- ClinGen CA375725799
- ClinVar RCV000814754
- ClinVar RCV001759580
- Pathogenic
- not provided; Neurodevelopmental disorder with or without hyperkinetic movements
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- AlphaMissense 1.00
- MetaLR 0.24
- MetaSVM -0.58
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic (not provided; Neurodevelopmental disorder with or without hyperk)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: GRIN1-Related Neurodevelopmental Disorder. (PMID 31219694)