Q139H (p.Gln139His) variant of WWTR1 (Q9GZV5)
Q139H (p.Gln139His) in WWTR1 (Q9GZV5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Q139H (p.Gln139His) variant details
- p.Gln139His
- TOPMed rs1449575136
- gnomAD rs1449575136
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.87
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available