A42E (p.Ala42Glu) variant of RAF1 (P04049)
A42E (p.Ala42Glu) in RAF1 (P04049) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A42E (p.Ala42Glu) variant details
- p.Ala42Glu
- rs1877563677
- gnomAD 14-20891784-C-CGA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 20.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score 0.0973
- Literature evidence available