P26L (p.Pro26Leu) variant of DLG4 (Disks large homolog 4)
P26L (p.Pro26Leu) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- cosmic curated COSV57236
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.07
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- DLG4 PDZ domain domainome 1.0: score -0.0328