A40T (p.Ala40Thr) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
A40T (p.Ala40Thr) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- gnomAD X-135985620-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 16.50
- Population evidence available
- Structural context available
- Literature evidence available