L54F (p.Leu54Phe) variant of ETFA (P13804)
L54F (p.Leu54Phe) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- Ensembl rs2039810079
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- ESM-1b 1.00
- AlphaMissense 0.39
- Structural context available