I77L (p.Ile77Leu) variant of GNAT1 (P11488)
I77L (p.Ile77Leu) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
I77L (p.Ile77Leu) variant details
- p.Ile77Leu
- gnomAD 3-50193344-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.38
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.54
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available