L48R (p.Leu48Arg) variant of RAF1 (P04049)
L48R (p.Leu48Arg) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L48R (p.Leu48Arg) variant details
- p.Leu48Arg
- gnomAD 14-20891739-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.22
- MetaLR 0.07
- MetaSVM -1.05
- CADD 20.70
- PolyPhen-2 0.79
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.506
- Literature evidence available