A17E (p.Ala17Glu) variant of ARAF (P10398)
A17E (p.Ala17Glu) in ARAF (P10398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A17E (p.Ala17Glu) variant details
- p.Ala17Glu
- gnomAD X-47563017-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.36
- CADD 19.50
- PolyPhen-2 0.20
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 3e-05)
- Structural context available
- ARAF Raf-like Ras-binding domain domainome 1.0: score -0.319
- Literature evidence available