A70V (p.Ala70Val) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
A70V (p.Ala70Val) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- ExAC rs752853989
- gnomAD rs752853989
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available