R2C (p.Arg2Cys) variant of GRIN2D (O15399)
R2C (p.Arg2Cys) in GRIN2D (O15399) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R2C (p.Arg2Cys) variant details
- p.Arg2Cys
- gnomAD 19-48398396-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.04
- ESM-1b 0.14
- AlphaMissense 0.69
- CADD 24.80
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available