V78A (p.Val78Ala) variant of GRIN1 (Q05586)
V78A (p.Val78Ala) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V78A (p.Val78Ala) variant details
- p.Val78Ala
- gnomAD 9-137139719-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.69
- CADD 26.80
- PolyPhen-2 0.57
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available