A52T (p.Ala52Thr) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
A52T (p.Ala52Thr) 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.
A52T (p.Ala52Thr) variant details
- p.Ala52Thr
- rs782214077
- gnomAD X-135985656-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 21.20
- Population evidence available
- Literature evidence available