K93Q (p.Lys93Gln) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
K93Q (p.Lys93Gln) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K93Q (p.Lys93Gln) variant details
- p.Lys93Gln
- gnomAD rs1489207973
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 23.50
- PolyPhen-2 0.42
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available