Y51* (p.Tyr51Ter) variant of CA2 (Carbonic anhydrase 2)
Y51* (p.Tyr51Ter) in CA2 (Carbonic anhydrase 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Y51* (p.Tyr51Ter) variant details
- p.Tyr51Ter
- rs1469283598
- ClinGen CA371424682
- ClinVar RCV003921471
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available