L44V (p.Leu44Val) variant of FTO (Q9C0B1)
L44V (p.Leu44Val) in FTO (Q9C0B1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L44V (p.Leu44Val) variant details
- p.Leu44Val
- ExAC rs748048648
- TOPMed rs748048648
- gnomAD rs748048648
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.12
- CADD 21.10
- PolyPhen-2 0.32
- SIFT 0.16
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.001)
- Structural context available