F54L (p.Phe54Leu) variant of SETD2 (Q9BYW2)
F54L (p.Phe54Leu) 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.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- Ensembl rs2106728793
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.40
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.3e-05)