R30H (p.Arg30His) variant of ARAF (P10398)
R30H (p.Arg30His) in ARAF (P10398) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- rs1398289359
- NCI-TCGA Cosmic COSV5169
- cosmic curated COSV51693
- gnomAD rs1398289359
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.86
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- ARAF Raf-like Ras-binding domain domainome 1.0: score -0.403