P21L (p.Pro21Leu) variant of DLG4 (Disks large homolog 4)
P21L (p.Pro21Leu) in DLG4 (Disks large homolog 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- cosmic curated COSV57240
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.25
- CADD 24.10
- PolyPhen-2 0.07
- SIFT 0.07
- Population evidence available
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.71