Y56* (p.Tyr56Ter) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
Y56* (p.Tyr56Ter) in SLC9A3 (Sodium/hydrogen exchanger 3) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Y56* (p.Tyr56Ter) variant details
- p.Tyr56Ter
- ExAC rs753413599
- gnomAD rs753413599
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 37.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available