A133V (p.Ala133Val) variant of DLG4 (Disks large homolog 4)
A133V (p.Ala133Val) 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 0.48 / 1. The record also includes population frequency data and structural context.
A133V (p.Ala133Val) variant details
- p.Ala133Val
- rs982251458
- ClinGen CA287420945
- ClinVar RCV003886732
- Ensembl rs982251458
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.33
- AlphaMissense 0.99
- MetaLR 0.09
- MetaSVM -1.13
- CADD 24.90
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available