C3S (p.Cys3Ser) variant of DLG4 (Disks large homolog 4)
C3S (p.Cys3Ser) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C3S (p.Cys3Ser) variant details
- p.Cys3Ser
- gnomAD rs1401805036
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.20
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score 0.003