S71R (p.Ser71Arg) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
S71R (p.Ser71Arg) 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.
S71R (p.Ser71Arg) variant details
- p.Ser71Arg
- gnomAD X-135994856-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- CADD 22.70
- PolyPhen-2 0.65
- SIFT 0.11
- Population evidence available
- Literature evidence available