S35F (p.Ser35Phe) variant of DLG4 (Disks large homolog 4)
S35F (p.Ser35Phe) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S35F (p.Ser35Phe) variant details
- p.Ser35Phe
- Ensembl rs2070334076
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.23
- CADD 24.90
- PolyPhen-2 0.73
- SIFT 0.03
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.915