L22R (p.Leu22Arg) variant of GRIN2D (O15399)
L22R (p.Leu22Arg) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L22R (p.Leu22Arg) variant details
- p.Leu22Arg
- gnomAD 19-48398457-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.25
- ESM-1b 0.29
- AlphaMissense 0.92
- CADD 25.40
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00011)
- Structural context available
- Literature evidence available