D115N (p.Asp115Asn) variant of DLG4 (Disks large homolog 4)
D115N (p.Asp115Asn) in DLG4 (Disks large homolog 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
D115N (p.Asp115Asn) variant details
- p.Asp115Asn
- rs754682597
- cosmic curated COSV10814
- ExAC rs754682597
- gnomAD rs754682597
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.76
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available