A21E (p.Ala21Glu) variant of GRIN1 (Q05586)
A21E (p.Ala21Glu) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- gnomAD 9-137139548-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.04
- CADD 18.00
- PolyPhen-2 0.07
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available