R52Q (p.Arg52Gln) variant of ARAF (P10398)
R52Q (p.Arg52Gln) in ARAF (P10398) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R52Q (p.Arg52Gln) variant details
- p.Arg52Gln
- cosmic curated COSV10879
- ESP rs140920401
- gnomAD rs140920401
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.77
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- ARAF Raf-like Ras-binding domain domainome 1.0: score -0.188