F103L (p.Phe103Leu) variant of ETFA (P13804)
F103L (p.Phe103Leu) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
F103L (p.Phe103Leu) variant details
- p.Phe103Leu
- gnomAD rs2039775151
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.83
- CADD 19.40
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available