C105C (p.Cys105Cys) variant of XPA (P23025)
C105C (p.Cys105Cys) in XPA (P23025) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
C105C (p.Cys105Cys) variant details
- p.Cys105Cys
- rs138536873
- gnomAD 9-97689608-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 12.20
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available