Q15K (p.Gln15Lys) variant of DLG4 (Disks large homolog 4)
Q15K (p.Gln15Lys) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q15K (p.Gln15Lys) variant details
- p.Gln15Lys
- cosmic curated COSV57240
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.17
- CADD 23.10
- PolyPhen-2 0.77
- SIFT 0.22
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -1.06