R126H (p.Arg126His) variant of DLG4 (Disks large homolog 4)
R126H (p.Arg126His) 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.
R126H (p.Arg126His) variant details
- p.Arg126His
- cosmic curated COSV10026
- ExAC rs760702915
- TOPMed rs760702915
- gnomAD rs760702915
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.13
- CADD 31.00
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)