A50V (p.Ala50Val) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
A50V (p.Ala50Val) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- rs1161139035
- gnomAD X-135985651-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 12.90
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available