A33T (p.Ala33Thr) variant of GRIN2A (Q12879)
A33T (p.Ala33Thr) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar 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 0.31 / 1. The record also includes population frequency data and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- rs1567354612
- NCI-TCGA Cosmic COSV5802
- cosmic curated COSV58029
- 1000Genomes rs1567354612
- Likely benign
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.03
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.26
- ClinVar: Likely benign (Landau-Kleffner syndrome)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available