F69V (p.Phe69Val) variant of FTO (Q9C0B1)
F69V (p.Phe69Val) in FTO (Q9C0B1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
F69V (p.Phe69Val) variant details
- p.Phe69Val
- gnomAD rs1352866890
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.78
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available