G4E (p.Gly4Glu) variant of YAP1 (Transcriptional coactivator YAP1)
G4E (p.Gly4Glu) in YAP1 (Transcriptional coactivator YAP1) 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 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G4E (p.Gly4Glu) variant details
- p.Gly4Glu
- rs867829919
- ClinGen CA228282917
- ClinVar RCV003398133
- TOPMed rs867829919
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.07
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.302