P53L (p.Pro53Leu) variant of GRIA1 (Glutamate receptor 1)
P53L (p.Pro53Leu) 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 0.41 / 1. The record also includes population frequency data and structural context.
P53L (p.Pro53Leu) variant details
- p.Pro53Leu
- NCI-TCGA Cosmic COSV5361
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.22
- MetaLR 0.14
- MetaSVM -1.03
- CADD 23.20
- PolyPhen-2 0.50
- SIFT 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available