L67F (p.Leu67Phe) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
L67F (p.Leu67Phe) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L67F (p.Leu67Phe) variant details
- p.Leu67Phe
- ExAC rs760008298
- gnomAD rs760008298
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.36
- CADD 22.40
- PolyPhen-2 0.70
- SIFT 0.09
- Most common in the East Asian population (allele frequency 0.00094)
- Structural context available