A21V (p.Ala21Val) variant of GRIN1 (Q05586)
A21V (p.Ala21Val) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- gnomAD 9-137139548-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.06
- CADD 18.60
- PolyPhen-2 0.14
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available