A58T (p.Ala58Thr) variant of HNF4A (P41235)
A58T (p.Ala58Thr) 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; Fanconi renotubular syndrome 4 with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
A58T (p.Ala58Thr) variant details
- p.Ala58Thr
- rs376906221
- ClinGen CA9870168
- cosmic curated COSV57380
- ClinVar RCV001941149
- Uncertain significance
- Maturity-onset diabetes of the young type 1; Fanconi renotubular syndrome 4 with
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.21
- MetaLR 0.68
- MetaSVM 0.19
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Maturity-onset diabetes of the young type 1; Fanconi renotubular)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)