R13C (p.Arg13Cys) variant of DLG4 (Disks large homolog 4)
R13C (p.Arg13Cys) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- cosmic curated COSV10513
- Ensembl rs2070567513
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.27
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.36