I44M (p.Ile44Met) variant of ETFB (P38117)
I44M (p.Ile44Met) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
I44M (p.Ile44Met) variant details
- p.Ile44Met
- ESP rs374935848
- ExAC rs374935848
- TOPMed rs374935848
- gnomAD rs374935848
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.56
- CADD 22.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available