Y56C (p.Tyr56Cys) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
Y56C (p.Tyr56Cys) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Y56C (p.Tyr56Cys) variant details
- p.Tyr56Cys
- gnomAD rs1410511710
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.62
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available