P19T (p.Pro19Thr) variant of YAP1 (Transcriptional coactivator YAP1)
P19T (p.Pro19Thr) in YAP1 (Transcriptional coactivator YAP1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P19T (p.Pro19Thr) variant details
- p.Pro19Thr
- gnomAD rs1402910700
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.06
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.8e-05)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.686