R3P (p.Arg3Pro) variant of ETFA (P13804)
R3P (p.Arg3Pro) 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 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- rs2141564581
- ClinGen CA393519616
- ClinVar RCV001991598
- Ensembl rs2141564581
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.604
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Multiple Acyl-CoA Dehydrogenase Deficiency. (PMID 32550677)