L79L (p.Leu79Leu) variant of ETFB (P38117)
L79L (p.Leu79Leu) in ETFB (P38117) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
L79L (p.Leu79Leu) variant details
- p.Leu79Leu
- rs1985974530
- gnomAD 19-51353270-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.325
- CADD 14.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available