L54L (p.Leu54Leu) variant of ARAF (P10398)
L54L (p.Leu54Leu) in ARAF (P10398) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L54L (p.Leu54Leu) variant details
- p.Leu54Leu
- rs748995528
- gnomAD X-47563291-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.31
- CADD 11.50
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- ARAF Raf-like Ras-binding domain domainome 1.0: score -0.756
- Literature evidence available