A45S (p.Ala45Ser) variant of GRIN1 (Q05586)
A45S (p.Ala45Ser) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A45S (p.Ala45Ser) variant details
- p.Ala45Ser
- gnomAD 9-137139619-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.75
- CADD 24.50
- PolyPhen-2 1.00
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available