S114N (p.Ser114Asn) variant of CASK (O14936)
S114N (p.Ser114Asn) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S114N (p.Ser114Asn) variant details
- p.Ser114Asn
- TOPMed rs1199090087
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.39
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available