G48R (p.Gly48Arg) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
G48R (p.Gly48Arg) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
G48R (p.Gly48Arg) variant details
- p.Gly48Arg
- rs782537893
- gnomAD X-135985644-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 5.21
- Population evidence available
- Literature evidence available