A71P (p.Ala71Pro) variant of GRIN1 (Q05586)
A71P (p.Ala71Pro) 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.
A71P (p.Ala71Pro) variant details
- p.Ala71Pro
- gnomAD 9-137139697-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.56
- CADD 22.60
- PolyPhen-2 0.10
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available