Q18R (p.Gln18Arg) variant of YAP1 (Transcriptional coactivator YAP1)
Q18R (p.Gln18Arg) in YAP1 (Transcriptional coactivator YAP1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- TOPMed rs1391541668
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.05
- CADD 17.90
- PolyPhen-2 0.06
- SIFT 0.64
- Most common in the East Asian population (allele frequency 3.8e-05)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.829