S36V (p.Ser36Val) variant of GRIA1 (Glutamate receptor 1)
S36V (p.Ser36Val) in GRIA1 (Glutamate receptor 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S36V (p.Ser36Val) variant details
- p.Ser36Val
- gnomAD 5-153492207-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.277
- CADD 12.30
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- Literature evidence available