G198R (p.Gly198Arg) variant of DLG4 (Disks large homolog 4)
G198R (p.Gly198Arg) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
G198R (p.Gly198Arg) variant details
- p.Gly198Arg
- gnomAD rs1326420629
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- REVEL 0.68
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)