R46L (p.Arg46Leu) variant of ETFA (P13804)
R46L (p.Arg46Leu) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glutaric acidemia type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- TOPMed rs865839624
- gnomAD rs865839624
- Uncertain significance
- Glutaric acidemia type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 14.00
- ClinVar: Uncertain significance (Glutaric acidemia type 2A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available