D282N (p.Asp282Asn) variant of HNF4A (P41235)
D282N (p.Asp282Asn) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 1. 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.
D282N (p.Asp282Asn) variant details
- p.Asp282Asn
- rs1236613475
- ClinGen CA409107540
- NCI-TCGA Cosmic COSV5738
- cosmic curated COSV57383
- Likely pathogenic
- Maturity-onset diabetes of the young type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.79
- AlphaMissense 0.58
- MetaLR 0.95
- MetaSVM 1.10
- CADD 25.20
- PolyPhen-2 0.98
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)