L154R (p.Leu154Arg) variant of ETFA (P13804)
L154R (p.Leu154Arg) in ETFA (P13804) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
L154R (p.Leu154Arg) variant details
- p.Leu154Arg
- gnomAD rs1286837897
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- ESM-1b 1.00
- AlphaMissense 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available