T8I (p.Thr8Ile) variant of GRIN2A (Q12879)
T8I (p.Thr8Ile) in GRIN2A (Q12879) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T8I (p.Thr8Ile) variant details
- p.Thr8Ile
- ExAC rs773135168
- TOPMed rs773135168
- gnomAD rs773135168
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.04
- CADD 18.60
- PolyPhen-2 0.04
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available