I66L (p.Ile66Leu) variant of GNAT1 (P11488)
I66L (p.Ile66Leu) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I66L (p.Ile66Leu) variant details
- p.Ile66Leu
- gnomAD 3-50193311-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.50
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available