A14T (p.Ala14Thr) variant of GRIN2A (Q12879)
A14T (p.Ala14Thr) 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 0.17 / 1. The record also includes population frequency data and structural context.
A14T (p.Ala14Thr) variant details
- p.Ala14Thr
- rs1596587522
- ClinGen CA394715847
- ClinVar RCV000996210
- Ensembl rs1596587522
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.02
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available