A105V (p.Ala105Val) variant of DLG4 (Disks large homolog 4)
A105V (p.Ala105Val) 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 not provided. 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.
A105V (p.Ala105Val) variant details
- p.Ala105Val
- cosmic curated COSV57236
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.48
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available