A10S (p.Ala10Ser) variant of GRIN1 (Q05586)
A10S (p.Ala10Ser) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A10S (p.Ala10Ser) variant details
- p.Ala10Ser
- gnomAD 9-137139514-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.28
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available