F46I (p.Phe46Ile) variant of SETD2 (Q9BYW2)
F46I (p.Phe46Ile) in SETD2 (Q9BYW2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F46I (p.Phe46Ile) variant details
- p.Phe46Ile
- ExAC rs763941922
- TOPMed rs763941922
- gnomAD rs763941922
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.38
- CADD 23.20
- PolyPhen-2 0.47
- SIFT 0.14
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- SETD2 WW domain domainome 1.0: score -0.435