W8C (p.Trp8Cys) variant of RAF1 (P04049)
W8C (p.Trp8Cys) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W8C (p.Trp8Cys) variant details
- p.Trp8Cys
- gnomAD 14-20891797-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.42
- MetaLR 0.63
- MetaSVM -0.19
- CADD 24.30
- PolyPhen-2 1.00
- SIFT 0.00
- 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 -0.859
- Literature evidence available