F166L (p.Phe166Leu) variant of ETFA (P13804)
F166L (p.Phe166Leu) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F166L (p.Phe166Leu) variant details
- p.Phe166Leu
- gnomAD rs1341792644
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.77
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available