R43S (p.Arg43Ser) variant of GRIA1 (Glutamate receptor 1)
R43S (p.Arg43Ser) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R43S (p.Arg43Ser) variant details
- p.Arg43Ser
- gnomAD 5-153493974-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.70
- MetaLR 0.53
- MetaSVM -0.07
- CADD 25.30
- PolyPhen-2 0.54
- SIFT 0.23
- Most common in the HGDP:KARITIANA population (allele frequency 0.35)
- Structural context available
- Literature evidence available