R46H (p.Arg46His) variant of ETFA (P13804)
R46H (p.Arg46His) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple acyl-CoA dehydrogenase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R46H (p.Arg46His) variant details
- p.Arg46His
- rs865839624
- NCI-TCGA Cosmic COSV5121
- TOPMed rs865839624
- gnomAD rs865839624
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.09
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available