F46L (p.Phe46Leu) variant of SETD2 (Q9BYW2)
F46L (p.Phe46Leu) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F46L (p.Phe46Leu) variant details
- p.Phe46Leu
- TOPMed rs1251864755
- gnomAD rs1251864755
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.35
- CADD 17.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.435