A12T (p.Ala12Thr) variant of YAP1 (Transcriptional coactivator YAP1)
A12T (p.Ala12Thr) 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.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- gnomAD 11-102110882-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.06
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.597
- Literature evidence available