C27F (p.Cys27Phe) variant of RAF1 (P04049)
C27F (p.Cys27Phe) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C27F (p.Cys27Phe) variant details
- p.Cys27Phe
- rs140556531
- gnomAD 14-20891835-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.49
- MetaLR 0.85
- MetaSVM 0.24
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.33
- Literature evidence available