L48F (p.Leu48Phe) variant of HNF4A (P41235)
L48F (p.Leu48Phe) in HNF4A (P41235) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L48F (p.Leu48Phe) variant details
- p.Leu48Phe
- cosmic curated COSV10733
- TOPMed rs753285226
- gnomAD rs753285226
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.24
- MetaLR 0.67
- MetaSVM 0.07
- CADD 21.10
- PolyPhen-2 0.14
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available