A62V (p.Ala62Val) variant of GRIN1 (Q05586)
A62V (p.Ala62Val) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A62V (p.Ala62Val) variant details
- p.Ala62Val
- gnomAD 9-137139671-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.52
- CADD 21.60
- PolyPhen-2 0.91
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available