A132V (p.Ala132Val) variant of DLG4 (Disks large homolog 4)
A132V (p.Ala132Val) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A132V (p.Ala132Val) variant details
- p.Ala132Val
- ExAC rs772124078
- TOPMed rs772124078
- gnomAD rs772124078
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.08
- CADD 15.70
- PolyPhen-2 0.04
- SIFT 0.42
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available