S43I (p.Ser43Ile) variant of GNAT1 (P11488)
S43I (p.Ser43Ile) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S43I (p.Ser43Ile) variant details
- p.Ser43Ile
- gnomAD 3-50193154-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.89
- CADD 27.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available