R2* (p.Arg2Ter) variant of HNF4A (P41235)
R2* (p.Arg2Ter) in HNF4A (P41235) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R2* (p.Arg2Ter) variant details
- p.Arg2Ter
- rs755329974
- ClinGen CA9870061
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10029
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.861
- CADD 37.00
- 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: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)