Q14R (p.Gln14Arg) variant of YAP1 (Transcriptional coactivator YAP1)
Q14R (p.Gln14Arg) in YAP1 (Transcriptional coactivator YAP1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q14R (p.Gln14Arg) variant details
- p.Gln14Arg
- rs1555075248
- gnomAD 11-102110882-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 22.40
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.666
- Literature evidence available