Y102* (p.Tyr102Ter) variant of XPA (P23025)
Y102* (p.Tyr102Ter) in XPA (P23025) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
Y102* (p.Tyr102Ter) variant details
- p.Tyr102Ter
- 1000Genomes rs199710643
- ExAC rs199710643
- gnomAD rs199710643
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 24.60
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available