S67I (p.Ser67Ile) variant of GRIA1 (Glutamate receptor 1)
S67I (p.Ser67Ile) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S67I (p.Ser67Ile) variant details
- p.Ser67Ile
- gnomAD 5-153494045-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.41
- MetaLR 0.29
- MetaSVM -0.52
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available
- Literature evidence available