D141N (p.Asp141Asn) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
D141N (p.Asp141Asn) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
D141N (p.Asp141Asn) variant details
- p.Asp141Asn
- Ensembl rs866277746
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available