Y42C (p.Tyr42Cys) variant of ARAF (P10398)
Y42C (p.Tyr42Cys) in ARAF (P10398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Y42C (p.Tyr42Cys) variant details
- p.Tyr42Cys
- gnomAD rs1292396776
- Missense
- Variant Prioritization Score for Impact Estimate 0.567
- REVEL 0.57
- CADD 23.80
- PolyPhen-2 0.95
- SIFT 0.14
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available
- ARAF Raf-like Ras-binding domain domainome 1.0: score -0.366