N38D (p.Asn38Asp) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
N38D (p.Asn38Asp) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
N38D (p.Asn38Asp) variant details
- p.Asn38Asp
- 1000Genomes rs550362662
- ExAC rs550362662
- gnomAD rs550362662
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available