C29C (p.Cys29Cys) variant of PCCB (P05166)
C29C (p.Cys29Cys) in PCCB (P05166) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
C29C (p.Cys29Cys) variant details
- p.Cys29Cys
- gnomAD 3-136250462-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 13.60
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available