A50V (p.Ala50Val) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
A50V (p.Ala50Val) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- TOPMed rs1474903418
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.04
- CADD 13.40
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available