E102A (p.Glu102Ala) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E102A (p.Glu102Ala) 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 Renal cysts and diabetes syndrome; Nonpapillary renal cell carcinoma; Type 2 dia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
E102A (p.Glu102Ala) variant details
- p.Glu102Ala
- rs982165538
- TOPMed rs982165538
- gnomAD rs982165538
- ClinGen CA290293071
- Uncertain significance
- Renal cysts and diabetes syndrome; Nonpapillary renal cell carcinoma; Type 2 dia
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- CADD 31.00
- PolyPhen-2 0.61
- SIFT 0.03
- ClinVar: Uncertain significance (Renal cysts and diabetes syndrome; Nonpapillary renal cell carci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: 17q12 Recurrent Deletion Syndrome. (PMID 27929632)
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)