F52L (p.Phe52Leu) variant of WWTR1 (Q9GZV5)
F52L (p.Phe52Leu) in WWTR1 (Q9GZV5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
F52L (p.Phe52Leu) variant details
- p.Phe52Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.27
- CADD 27.60
- PolyPhen-2 0.90
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available