A60T (p.Ala60Thr) variant of GRIN2A (Q12879)
A60T (p.Ala60Thr) 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 0.27 / 1. The record also includes population frequency data and structural context.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- gnomAD rs1276986122
- Likely benign
- Landau-Kleffner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.18
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Likely benign (Landau-Kleffner syndrome)
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available