R16L (p.Arg16Leu) variant of ARAF (P10398)
R16L (p.Arg16Leu) in ARAF (P10398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R16L (p.Arg16Leu) variant details
- p.Arg16Leu
- ExAC rs765492001
- gnomAD rs765492001
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.43
- CADD 24.70
- PolyPhen-2 0.59
- SIFT 0.04
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00017)
- Structural context available
- ARAF Raf-like Ras-binding domain domainome 1.0: score 0.0001