D18A (p.Asp18Ala) variant of DLG4 (Disks large homolog 4)
D18A (p.Asp18Ala) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D18A (p.Asp18Ala) variant details
- p.Asp18Ala
- ExAC rs763066158
- TOPMed rs763066158
- gnomAD rs763066158
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.19
- CADD 23.40
- PolyPhen-2 0.23
- SIFT 0.15
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.369