P86T (p.Pro86Thr) variant of DLG4 (Disks large homolog 4)
P86T (p.Pro86Thr) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P86T (p.Pro86Thr) variant details
- p.Pro86Thr
- ExAC rs753336687
- TOPMed rs753336687
- gnomAD rs753336687
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.33
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.0951