I89M (p.Ile89Met) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
I89M (p.Ile89Met) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I89M (p.Ile89Met) variant details
- p.Ile89Met
- ESP rs376704791
- ExAC rs376704791
- TOPMed rs376704791
- gnomAD rs376704791
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.32
- CADD 21.40
- PolyPhen-2 0.91
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available