R16W (p.Arg16Trp) variant of ARAF (P10398)
R16W (p.Arg16Trp) in ARAF (P10398) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R16W (p.Arg16Trp) variant details
- p.Arg16Trp
- 1000Genomes rs201871676
- ExAC rs201871676
- TOPMed rs201871676
- gnomAD rs201871676
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.587
- REVEL 0.56
- CADD 26.20
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHS population (allele frequency 0.0065)
- Structural context available
- ARAF Raf-like Ras-binding domain domainome 1.0: score 0.0001