L48I (p.Leu48Ile) variant of HNF4A (P41235)
L48I (p.Leu48Ile) in HNF4A (P41235) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Maturity-onset diabetes of the young type 1; Type 2 diabetes melli. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L48I (p.Leu48Ile) variant details
- p.Leu48Ile
- rs753285226
- ClinGen CA315403984
- ClinVar RCV002265518
- ClinVar RCV002481076
- Uncertain significance
- not provided; Maturity-onset diabetes of the young type 1; Type 2 diabetes melli
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.23
- MetaLR 0.63
- MetaSVM -0.09
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.32
- ClinVar: Uncertain significance (not provided; Maturity-onset diabetes of the young type 1; Type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)