Y146F (p.Tyr146Phe) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
Y146F (p.Tyr146Phe) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Y146F (p.Tyr146Phe) variant details
- p.Tyr146Phe
- gnomAD rs1371724563
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.20
- CADD 22.70
- PolyPhen-2 0.79
- SIFT 0.24
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available