E13K (p.Glu13Lys) variant of ARAF (P10398)
E13K (p.Glu13Lys) 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 0.44 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E13K (p.Glu13Lys) variant details
- p.Glu13Lys
- rs749564014
- ClinGen CA10397914
- NCI-TCGA Cosmic COSV9928
- cosmic curated COSV99283
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.29
- CADD 19.60
- PolyPhen-2 0.08
- SIFT 0.46
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.5e-05)
- Structural context available
- ARAF Raf-like Ras-binding domain domainome 1.0: score -0.856