C27R (p.Cys27Arg) variant of RAF1 (P04049)
C27R (p.Cys27Arg) in RAF1 (P04049) is a missense 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.
C27R (p.Cys27Arg) variant details
- p.Cys27Arg
- gnomAD 14-20891717-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.04
- MetaLR 0.02
- MetaSVM -1.00
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.33
- Literature evidence available