p.Gly48dup variant of SLC9A6 (Sodium/hydrogen exchanger 6)
p.Gly48dup in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and published literature.
p.Gly48dup variant details
- rs796053292
- gnomAD X-135985633-A-ACG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 16.20
- Population evidence available
- Literature evidence available