C40R (p.Cys40Arg) variant of MYC (Myc proto-oncogene protein)
C40R (p.Cys40Arg) in MYC (Myc proto-oncogene protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and published literature.
C40R (p.Cys40Arg) variant details
- p.Cys40Arg
- rs111915501
- gnomAD 8-127736082-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- CADD 13.70
- SIFT 0.52
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Literature evidence available