F38L (p.Phe38Leu) variant of FTO (Q9C0B1)
F38L (p.Phe38Leu) in FTO (Q9C0B1) 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 0.59 / 1. The record also includes population frequency data and structural context.
F38L (p.Phe38Leu) variant details
- p.Phe38Leu
- rs780803760
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10115
- ExAC rs780803760
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.71
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available