A25T (p.Ala25Thr) variant of GRIN2A (Q12879)
A25T (p.Ala25Thr) in GRIN2A (Q12879) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- rs2050240989
- ClinGen CA394715783
- cosmic curated COSV58027
- ClinVar RCV003313625
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.02
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available