A104T (p.Ala104Thr) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
A104T (p.Ala104Thr) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
A104T (p.Ala104Thr) variant details
- p.Ala104Thr
- gnomAD rs1490161010
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 25.00
- PolyPhen-2 0.33
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available