K48N (p.Lys48Asn) variant of FTO (Q9C0B1)
K48N (p.Lys48Asn) in FTO (Q9C0B1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- gnomAD 16-53825884-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.24
- CADD 15.00
- PolyPhen-2 0.36
- SIFT 0.31
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available