A20V (p.Ala20Val) variant of GRIN1 (Q05586)
A20V (p.Ala20Val) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- gnomAD 9-137139545-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.10
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available