L49R (p.Leu49Arg) variant of GRIA1 (Glutamate receptor 1)
L49R (p.Leu49Arg) in GRIA1 (Glutamate receptor 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L49R (p.Leu49Arg) variant details
- p.Leu49Arg
- gnomAD 5-153493991-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.28
- MetaLR 0.54
- MetaSVM 0.22
- CADD 22.60
- PolyPhen-2 0.09
- SIFT 0.38
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Literature evidence available