P90T (p.Pro90Thr) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
P90T (p.Pro90Thr) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Maturity-onset diabetes of the young; Renal cysts and diabetes syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
P90T (p.Pro90Thr) variant details
- p.Pro90Thr
- rs772315985
- ClinGen CA290293121
- ClinVar RCV001127841
- ClinVar RCV002465832
- Conflicting interpretations
- Maturity-onset diabetes of the young; Renal cysts and diabetes syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- CADD 28.50
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young; Renal cysts and diabetes s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)