V56D (p.Val56Asp) variant of HNF4A (P41235)
V56D (p.Val56Asp) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance/uncertain risk allele in the context of Maturity-onset diabetes of the young; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
V56D (p.Val56Asp) variant details
- p.Val56Asp
- rs2063496235
- ClinGen CA409103758
- ClinVar RCV001195383
- ClinVar RCV002365894
- Uncertain significance/Uncertain risk allele
- Maturity-onset diabetes of the young; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- AlphaMissense 0.40
- MetaLR 0.70
- MetaSVM 0.38
- PolyPhen-2 0.70
- SIFT 0.02
- EVE 0.26
- ClinVar: Uncertain significance/Uncertain risk allele (Maturity-onset diabetes of the young; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)