P23Q (p.Pro23Gln) variant of GRIN2A (Q12879)
P23Q (p.Pro23Gln) 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 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
P23Q (p.Pro23Gln) variant details
- p.Pro23Gln
- rs969233060
- ClinGen CA277615988
- ClinVar RCV001991356
- TOPMed rs969233060
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.01
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.94
- CADD 7.93
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)