Q18K (p.Gln18Lys) variant of YAP1 (Transcriptional coactivator YAP1)
Q18K (p.Gln18Lys) in YAP1 (Transcriptional coactivator YAP1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q18K (p.Gln18Lys) variant details
- p.Gln18Lys
- gnomAD 11-102110900-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.08
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 4e-05)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.829
- Literature evidence available