H53D (p.His53Asp) variant of GRIN1 (Q05586)
H53D (p.His53Asp) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
H53D (p.His53Asp) variant details
- p.His53Asp
- gnomAD 9-137139643-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.10
- CADD 22.50
- PolyPhen-2 0.73
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available