A20S (p.Ala20Ser) variant of GRIN1 (Q05586)
A20S (p.Ala20Ser) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 9-137139544-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.16
- CADD 17.80
- PolyPhen-2 0.17
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available