A12V (p.Ala12Val) variant of YAP1 (Transcriptional coactivator YAP1)
A12V (p.Ala12Val) in YAP1 (Transcriptional coactivator YAP1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- TOPMed rs1180551289
- gnomAD rs1180551289
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.05
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.597