V18A (p.Val18Ala) variant of ETFB (P38117)
V18A (p.Val18Ala) 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 0.55 / 1. The record also includes population frequency data and structural context.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- TOPMed rs1428028565
- gnomAD rs1428028565
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.50
- CADD 24.80
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available