R126C (p.Arg126Cys) variant of DLG4 (Disks large homolog 4)
R126C (p.Arg126Cys) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data.
R126C (p.Arg126Cys) variant details
- p.Arg126Cys
- gnomAD rs1453612541
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.23
- CADD 24.90
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)