A19T (p.Ala19Thr) variant of GRIA1 (Glutamate receptor 1)
A19T (p.Ala19Thr) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A19T (p.Ala19Thr) variant details
- p.Ala19Thr
- gnomAD 5-153490943-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.03
- MetaLR 0.02
- MetaSVM -1.04
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available
- Literature evidence available