A18S (p.Ala18Ser) variant of GRIN1 (Q05586)
A18S (p.Ala18Ser) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- gnomAD 9-137139538-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.17
- CADD 21.50
- PolyPhen-2 0.42
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available