A18V (p.Ala18Val) variant of GRIN1 (Q05586)
A18V (p.Ala18Val) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- gnomAD 9-137139539-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.17
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available