L13P (p.Leu13Pro) variant of GRIA1 (Glutamate receptor 1)
L13P (p.Leu13Pro) in GRIA1 (Glutamate receptor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- rs3841128
- gnomAD 5-153492228-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.333
- CADD 23.00
- Most common in the HGDP:BIAKA population (allele frequency 0.18)
- Structural context available
- Literature evidence available