G53V (p.Gly53Val) variant of ARAF (P10398)
G53V (p.Gly53Val) in ARAF (P10398) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G53V (p.Gly53Val) variant details
- p.Gly53Val
- gnomAD X-47563283-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 30.00
- 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 -0.377
- Literature evidence available