R3H (p.Arg3His) variant of FTO (Q9C0B1)
R3H (p.Arg3His) in FTO (Q9C0B1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R3H (p.Arg3His) variant details
- p.Arg3His
- gnomAD 16-53704192-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.34
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available