K18S (p.Lys18Ser) variant of GNAT1 (P11488)
K18S (p.Lys18Ser) in GNAT1 (P11488) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
K18S (p.Lys18Ser) variant details
- p.Lys18Ser
- rs753761683
- gnomAD 3-50191775-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 27.30
- Population evidence available
- Structural context available
- Literature evidence available