A175S (p.Ala175Ser) variant of DLG4 (Disks large homolog 4)
A175S (p.Ala175Ser) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data.
A175S (p.Ala175Ser) variant details
- p.Ala175Ser
- TOPMed rs1179126590
- gnomAD rs1179126590
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.20
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)