I68V (p.Ile68Val) variant of GNAT1 (P11488)
I68V (p.Ile68Val) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
I68V (p.Ile68Val) variant details
- p.Ile68Val
- gnomAD 3-50193317-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.37
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available