R150H (p.Arg150His) variant of DLG4 (Disks large homolog 4)
R150H (p.Arg150His) 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 0.61 / 1. The record also includes population frequency data and structural context.
R150H (p.Arg150His) variant details
- p.Arg150His
- rs754521971
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10026
- ExAC rs754521971
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.47
- CADD 27.60
- PolyPhen-2 0.85
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available