D65G (p.Asp65Gly) variant of HNF4A (P41235)
D65G (p.Asp65Gly) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Maturity-onset diabetes of the young type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
D65G (p.Asp65Gly) variant details
- p.Asp65Gly
- rs1600707598
- ClinGen CA409103814
- ClinVar RCV003231064
- Uncertain significance
- Maturity-onset diabetes of the young type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.87
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)