T29I (p.Thr29Ile) variant of GNAT1 (P11488)
T29I (p.Thr29Ile) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
T29I (p.Thr29Ile) variant details
- p.Thr29Ile
- gnomAD 3-50191811-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.68
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available