L52F (p.Leu52Phe) variant of DLG4 (Disks large homolog 4)
L52F (p.Leu52Phe) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L52F (p.Leu52Phe) variant details
- p.Leu52Phe
- Ensembl rs1567542317
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.05
- CADD 19.40
- PolyPhen-2 0.45
- SIFT 0.59
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.608