D43N (p.Asp43Asn) variant of ARAF (P10398)
D43N (p.Asp43Asn) 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 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D43N (p.Asp43Asn) variant details
- p.Asp43Asn
- rs1569319031
- NCI-TCGA Cosmic COSV5169
- cosmic curated COSV51691
- Ensembl rs1569319031
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.417
- REVEL 0.38
- CADD 24.30
- PolyPhen-2 0.18
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 7.4e-05)
- Structural context available
- ARAF Raf-like Ras-binding domain domainome 1.0: score -0.829