P37A (p.Pro37Ala) variant of DLG4 (Disks large homolog 4)
P37A (p.Pro37Ala) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P37A (p.Pro37Ala) variant details
- p.Pro37Ala
- ExAC rs758437498
- gnomAD rs758437498
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.38
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.724