A136T (p.Ala136Thr) variant of DLG4 (Disks large homolog 4)
A136T (p.Ala136Thr) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A136T (p.Ala136Thr) variant details
- p.Ala136Thr
- ExAC rs778396489
- gnomAD rs778396489
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.33
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available