K10E (p.Lys10Glu) variant of GNAT1 (P11488)
K10E (p.Lys10Glu) in GNAT1 (P11488) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
K10E (p.Lys10Glu) variant details
- p.Lys10Glu
- gnomAD 3-50191753-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.48
- CADD 24.60
- PolyPhen-2 0.54
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available