G48C (p.Gly48Cys) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
G48C (p.Gly48Cys) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
G48C (p.Gly48Cys) variant details
- p.Gly48Cys
- gnomAD X-135985827-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Literature evidence available