P31L (p.Pro31Leu) variant of GRIN2A (Q12879)
P31L (p.Pro31Leu) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- rs2050239798
- ClinGen CA394715747
- cosmic curated COSV58051
- ClinVar RCV001992083
- Uncertain significance
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.07
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Landau-Kleffner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)