A70S (p.Ala70Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
A70S (p.Ala70Ser) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A70S (p.Ala70Ser) variant details
- p.Ala70Ser
- ExAC rs761609163
- TOPMed rs761609163
- gnomAD rs761609163
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 0.00014)
- Structural context available