E32K (p.Glu32Lys) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
E32K (p.Glu32Lys) in HNF1B (Hepatocyte nuclear factor 1-beta) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Ovarian cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- rs2511852824
- ClinGen CA398754586
- ClinVar RCV003154697
- Benign
- Ovarian cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 25.00
- PolyPhen-2 0.13
- SIFT 0.01
- ClinVar: Benign (Ovarian cancer)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement. (PMID 22964825)
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)