E127K (p.Glu127Lys) variant of DLG4 (Disks large homolog 4)
E127K (p.Glu127Lys) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
E127K (p.Glu127Lys) variant details
- p.Glu127Lys
- rs928035071
- ClinVar RCV004592135
- gnomAD rs928035071
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.19
- CADD 23.60
- PolyPhen-2 0.48
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available