L13S (p.Leu13Ser) variant of GRIA1 (Glutamate receptor 1)
L13S (p.Leu13Ser) in GRIA1 (Glutamate receptor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L13S (p.Leu13Ser) variant details
- p.Leu13Ser
- rs888881381
- gnomAD 5-153492227-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 23.70
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available