A41T (p.Ala41Thr) variant of GRIA1 (Glutamate receptor 1)
A41T (p.Ala41Thr) in GRIA1 (Glutamate receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A41T (p.Ala41Thr) variant details
- p.Ala41Thr
- ESP rs146859383
- TOPMed rs146859383
- gnomAD rs146859383
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.723
- REVEL 0.66
- MetaLR 0.79
- MetaSVM 0.74
- CADD 24.30
- PolyPhen-2 0.93
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SARDINIAN population (allele frequency 0.037)
- Structural context available