A62T (p.Ala62Thr) variant of GRIN1 (Q05586)
A62T (p.Ala62Thr) in GRIN1 (Q05586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
A62T (p.Ala62Thr) variant details
- p.Ala62Thr
- gnomAD 9-137139670-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.50
- CADD 24.20
- PolyPhen-2 0.76
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available