A31V (p.Ala31Val) variant of GRIN1 (Q05586)
A31V (p.Ala31Val) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs1832052066
- gnomAD 9-137139578-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.14
- CADD 24.50
- PolyPhen-2 0.01
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available