I48L (p.Ile48Leu) variant of ETFDH (Q16134)
I48L (p.Ile48Leu) in ETFDH (Q16134) 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 0.13 / 1. The record also includes population frequency data and structural context.
I48L (p.Ile48Leu) variant details
- p.Ile48Leu
- 1000Genomes rs201823591
- ExAC rs201823591
- TOPMed rs201823591
- gnomAD rs201823591
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.18
- CADD 0.86
- PolyPhen-2 0.00
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available