P29Q (p.Pro29Gln) variant of YAP1 (Transcriptional coactivator YAP1)
P29Q (p.Pro29Gln) in YAP1 (Transcriptional coactivator YAP1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P29Q (p.Pro29Gln) variant details
- p.Pro29Gln
- rs2496404823
- ClinGen CA382490597
- ClinVar RCV004485793
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.07
- CADD 17.10
- PolyPhen-2 0.27
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.4