P37S (p.Pro37Ser) variant of DLG4 (Disks large homolog 4)
P37S (p.Pro37Ser) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- ExAC rs758437498
- gnomAD rs758437498
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.32
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.724