M129I (p.Met129Ile) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
M129I (p.Met129Ile) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
M129I (p.Met129Ile) variant details
- p.Met129Ile
- TOPMed rs2033931848
- gnomAD rs2033931848
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- CADD 25.30
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available