M39L (p.Met39Leu) variant of GRIN2A (Q12879)
M39L (p.Met39Leu) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes published literature and structural context.
M39L (p.Met39Leu) variant details
- p.Met39Leu
- rs2142390680
- ClinGen CA394715701
- ClinVar RCV001867555
- Ensembl rs2142390680
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.24
- MutPred 0.65
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)