S80F (p.Ser80Phe) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
S80F (p.Ser80Phe) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
S80F (p.Ser80Phe) variant details
- p.Ser80Phe
- rs942582464
- Ensembl rs942582464
- ClinGen CA290293142
- ClinVar RCV001759236
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- CADD 29.10
- PolyPhen-2 0.72
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available