C64C (p.Cys64Cys) variant of CHAMP1 (Q96JM3)
C64C (p.Cys64Cys) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
C64C (p.Cys64Cys) variant details
- p.Cys64Cys
- rs782421881
- gnomAD 13-114324034-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 11.10
- Most common in the 1KG:CLM population (allele frequency 0.043)
- Structural context available
- Literature evidence available