K48Q (p.Lys48Gln) variant of FTO (Q9C0B1)
K48Q (p.Lys48Gln) in FTO (Q9C0B1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lethal polymalformative syndrome, Boissel type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
K48Q (p.Lys48Gln) variant details
- p.Lys48Gln
- rs765590518
- ClinGen CA8058319
- ClinVar RCV001121156
- ExAC rs765590518
- Uncertain significance
- Lethal polymalformative syndrome, Boissel type
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.45
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.09
- ClinVar: Uncertain significance (Lethal polymalformative syndrome, Boissel type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available