I68T (p.Ile68Thr) variant of GNAT1 (P11488)
I68T (p.Ile68Thr) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
I68T (p.Ile68Thr) variant details
- p.Ile68Thr
- gnomAD 3-50193318-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.88
- CADD 26.30
- PolyPhen-2 0.49
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available