D58N (p.Asp58Asn) variant of CASK (O14936)
D58N (p.Asp58Asn) in CASK (O14936) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D58N (p.Asp58Asn) variant details
- p.Asp58Asn
- Ensembl rs1231160273
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.18
- CADD 34.00
- PolyPhen-2 0.23
- SIFT 0.06
- Population evidence available
- Structural context available
- CASK PDZ domain domainome 1.0: score -0.0478