G17E (p.Gly17Glu) variant of YAP1 (Transcriptional coactivator YAP1)
G17E (p.Gly17Glu) in YAP1 (Transcriptional coactivator YAP1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G17E (p.Gly17Glu) variant details
- p.Gly17Glu
- TOPMed rs1036138787
- gnomAD rs1036138787
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- CADD 23.00
- PolyPhen-2 0.11
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- YAP1 WW domain domainome 1.0: score -1.03