P21L (p.Pro21Leu) variant of GRIN2A (Q12879)
P21L (p.Pro21Leu) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Landau-Kleffner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- rs749314552
- ClinGen CA7897056
- cosmic curated COSV58036
- ClinVar RCV001221730
- Likely benign
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.06
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Likely benign (Landau-Kleffner syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: GRIN2A-Related Disorders. (PMID 27683935)