R41S (p.Arg41Ser) variant of RAF1 (P04049)
R41S (p.Arg41Ser) in RAF1 (P04049) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R41S (p.Arg41Ser) variant details
- p.Arg41Ser
- rs1393494732
- gnomAD 14-20891823-A-AC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -1.03
- Literature evidence available