L48L (p.Leu48Leu) variant of RAF1 (P04049)
L48L (p.Leu48Leu) in RAF1 (P04049) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L48L (p.Leu48Leu) variant details
- p.Leu48Leu
- rs755183918
- gnomAD 14-20891699-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 2.04
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.506
- Literature evidence available