V125M (p.Val125Met) variant of DLG4 (Disks large homolog 4)
V125M (p.Val125Met) 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 0.53 / 1. The record also includes population frequency data and structural context.
V125M (p.Val125Met) variant details
- p.Val125Met
- rs571720664
- ClinGen CA8337206
- cosmic curated COSV10646
- ClinVar RCV002462675
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.34
- CADD 25.30
- PolyPhen-2 0.92
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0043)
- Structural context available