D90E (p.Asp90Glu) variant of DLG4 (Disks large homolog 4)
D90E (p.Asp90Glu) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D90E (p.Asp90Glu) variant details
- p.Asp90Glu
- rs755756114
- ClinGen CA397720055
- ClinVar RCV003235983
- ExAC rs755756114
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.05
- CADD 22.70
- PolyPhen-2 0.19
- SIFT 0.18
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score 0.0086