A50T (p.Ala50Thr) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A50T (p.Ala50Thr) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
A50T (p.Ala50Thr) variant details
- p.Ala50Thr
- TOPMed rs1370824166
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.07
- CADD 11.90
- PolyPhen-2 0.01
- SIFT 0.35
- Population evidence available
- Structural context available