P53R (p.Pro53Arg) variant of GRIA1 (Glutamate receptor 1)
P53R (p.Pro53Arg) in GRIA1 (Glutamate receptor 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P53R (p.Pro53Arg) variant details
- p.Pro53Arg
- gnomAD rs1754178854
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.31
- MetaLR 0.08
- MetaSVM -1.11
- CADD 23.40
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available