R151W (p.Arg151Trp) variant of DLG4 (Disks large homolog 4)
R151W (p.Arg151Trp) 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 Intellectual developmental disorder 62. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R151W (p.Arg151Trp) variant details
- p.Arg151Trp
- rs2508024417
- ClinVar RCV004594937
- Uncertain significance
- Intellectual developmental disorder 62
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.26
- CADD 28.30
- PolyPhen-2 0.21
- SIFT 0.01
- ClinVar: Uncertain significance (Intellectual developmental disorder 62)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: DLG4-Related Synaptopathy. (PMID 37347881)