R30L (p.Arg30Leu) variant of ARAF (P10398)
R30L (p.Arg30Leu) in ARAF (P10398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R30L (p.Arg30Leu) variant details
- p.Arg30Leu
- gnomAD rs1398289359
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.01
- Population evidence available
- Structural context available
- ARAF Raf-like Ras-binding domain domainome 1.0: score -0.403