T50A (p.Thr50Ala) variant of GRIA1 (Glutamate receptor 1)
T50A (p.Thr50Ala) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
T50A (p.Thr50Ala) variant details
- p.Thr50Ala
- gnomAD rs1408793480
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.31
- MetaLR 0.29
- MetaSVM -0.60
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available