S12P (p.Ser12Pro) variant of GNAT1 (P11488)
S12P (p.Ser12Pro) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- gnomAD 3-50191759-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.83
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available