W8L (p.Trp8Leu) variant of RAF1 (P04049)
W8L (p.Trp8Leu) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
W8L (p.Trp8Leu) variant details
- p.Trp8Leu
- gnomAD 14-20891796-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.31
- MetaLR 0.56
- MetaSVM -0.63
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.859
- Literature evidence available