V144I (p.Val144Ile) variant of DLG4 (Disks large homolog 4)
V144I (p.Val144Ile) 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 and structural context.
V144I (p.Val144Ile) variant details
- p.Val144Ile
- 1000Genomes rs200429432
- ExAC rs200429432
- gnomAD rs200429432
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.14
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available