P60S (p.Pro60Ser) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P60S (p.Pro60Ser) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P60S (p.Pro60Ser) variant details
- p.Pro60Ser
- 1000Genomes rs551134668
- ExAC rs551134668
- TOPMed rs551134668
- gnomAD rs551134668
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- CADD 23.40
- PolyPhen-2 0.33
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available