R51C (p.Arg51Cys) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
R51C (p.Arg51Cys) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and published literature.
R51C (p.Arg51Cys) variant details
- p.Arg51Cys
- gnomAD X-135985782-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- CADD 25.20
- PolyPhen-2 0.38
- SIFT 0.05
- Population evidence available
- Literature evidence available