Y16F (p.Tyr16Phe) variant of SETD2 (Q9BYW2)
Y16F (p.Tyr16Phe) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y16F (p.Tyr16Phe) variant details
- p.Tyr16Phe
- TOPMed rs1265402763
- gnomAD rs1265402763
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.30
- CADD 24.20
- PolyPhen-2 0.78
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.164