Q18L (p.Gln18Leu) variant of YAP1 (Transcriptional coactivator YAP1)
Q18L (p.Gln18Leu) in YAP1 (Transcriptional coactivator YAP1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q18L (p.Gln18Leu) variant details
- p.Gln18Leu
- TOPMed rs1391541668
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.04
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.03
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.829