T82A (p.Thr82Ala) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
T82A (p.Thr82Ala) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and published literature.
T82A (p.Thr82Ala) variant details
- p.Thr82Ala
- rs2148129982
- gnomAD X-135985761-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 23.70
- PolyPhen-2 0.24
- SIFT 0.02
- Population evidence available
- Literature evidence available