D43N (p.Asp43Asn) variant of DLG4 (Disks large homolog 4)
D43N (p.Asp43Asn) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- Ensembl rs2142889058
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- CADD 25.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.615