Q5L (p.Gln5Leu) variant of YAP1 (Transcriptional coactivator YAP1)
Q5L (p.Gln5Leu) in YAP1 (Transcriptional coactivator YAP1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q5L (p.Gln5Leu) variant details
- p.Gln5Leu
- gnomAD rs1279185601
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.09
- CADD 24.80
- PolyPhen-2 0.40
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.38