S25T (p.Ser25Thr) variant of DLG4 (Disks large homolog 4)
S25T (p.Ser25Thr) 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, experimental measurements, and structural context.
S25T (p.Ser25Thr) variant details
- p.Ser25Thr
- TOPMed rs2070566580
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.06
- CADD 22.10
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.164