K9E (p.Lys9Glu) variant of RAF1 (P04049)
K9E (p.Lys9Glu) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K9E (p.Lys9Glu) variant details
- p.Lys9Glu
- gnomAD 14-20891696-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.04
- MetaLR 0.03
- MetaSVM -1.01
- CADD 21.40
- PolyPhen-2 0.68
- SIFT 0.01
- 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 -0.829
- Literature evidence available