K143E (p.Lys143Glu) variant of CASK (O14936)
K143E (p.Lys143Glu) in CASK (O14936) 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.
K143E (p.Lys143Glu) variant details
- p.Lys143Glu
- gnomAD X-41523019-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 21.70
- Population evidence available
- Structural context available
- Literature evidence available