I59T (p.Ile59Thr) variant of GRIA1 (Glutamate receptor 1)
I59T (p.Ile59Thr) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
I59T (p.Ile59Thr) variant details
- p.Ile59Thr
- gnomAD 5-153494021-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.57
- MetaLR 0.56
- MetaSVM 0.14
- CADD 22.60
- PolyPhen-2 0.13
- SIFT 0.26
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available
- Literature evidence available