Y12C (p.Tyr12Cys) variant of DLG4 (Disks large homolog 4)
Y12C (p.Tyr12Cys) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y12C (p.Tyr12Cys) variant details
- p.Tyr12Cys
- cosmic curated COSV57236
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.54
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.03
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.143