A15T (p.Ala15Thr) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
A15T (p.Ala15Thr) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
A15T (p.Ala15Thr) variant details
- p.Ala15Thr
- gnomAD rs1282378255
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available