I58V (p.Ile58Val) variant of RAF1 (P04049)
I58V (p.Ile58Val) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
I58V (p.Ile58Val) variant details
- p.Ile58Val
- rs759443996
- gnomAD 14-20891840-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0806
- REVEL 0.03
- MetaLR 0.15
- MetaSVM -0.98
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.81
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available
- RAF1 Raf-like Ras-binding domain domainome 1.0: score -0.361
- Literature evidence available