A3V (p.Ala3Val) variant of GNAT1 (P11488)
A3V (p.Ala3Val) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A3V (p.Ala3Val) variant details
- p.Ala3Val
- gnomAD 3-50191733-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.45
- CADD 23.40
- PolyPhen-2 0.14
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available