T47R (p.Thr47Arg) variant of GRIN2A (Q12879)
T47R (p.Thr47Arg) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
T47R (p.Thr47Arg) variant details
- p.Thr47Arg
- gnomAD rs1273398229
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.58
- CADD 23.00
- ClinVar: Likely benign (not specified)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available