F41L (p.Phe41Leu) variant of ETFB (P38117)
F41L (p.Phe41Leu) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
F41L (p.Phe41Leu) variant details
- p.Phe41Leu
- cosmic curated COSV58537
- TOPMed rs1261822150
- gnomAD rs1261822150
- Missense
- Variant Prioritization Score for Impact Estimate 0.734
- REVEL 0.81
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available