K2R (p.Lys2Arg) variant of FTO (Q9C0B1)
K2R (p.Lys2Arg) in FTO (Q9C0B1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
K2R (p.Lys2Arg) variant details
- p.Lys2Arg
- gnomAD 16-53704189-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.25
- CADD 27.10
- PolyPhen-2 0.98
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available