A33D (p.Ala33Asp) variant of DLG4 (Disks large homolog 4)
A33D (p.Ala33Asp) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A33D (p.Ala33Asp) variant details
- p.Ala33Asp
- Ensembl rs2070334573
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.28
- CADD 25.00
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.884