Q16H (p.Gln16His) variant of YAP1 (Transcriptional coactivator YAP1)
Q16H (p.Gln16His) in YAP1 (Transcriptional coactivator YAP1) is a missense change. Clinical records from ClinVar 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 0.12 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q16H (p.Gln16His) variant details
- p.Gln16His
- TOPMed rs1353903423
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.01
- CADD 20.20
- PolyPhen-2 0.05
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3e-05)
- Structural context available
- YAP1 WW domain domainome 1.0: score -0.574