A12D (p.Ala12Asp) variant of YAP1 (Transcriptional coactivator YAP1)
A12D (p.Ala12Asp) 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, published literature, and structural context.
A12D (p.Ala12Asp) variant details
- p.Ala12Asp
- gnomAD 11-102110883-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.05
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.8e-07)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.597
- Literature evidence available