D44E (p.Asp44Glu) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
D44E (p.Asp44Glu) in SLC9A6 (Sodium/hydrogen exchanger 6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D44E (p.Asp44Glu) variant details
- p.Asp44Glu
- rs1343262050
- gnomAD X-135985634-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 12.00
- Most common in the Non-Finnish European population (allele frequency 8.3e-06)
- Structural context available
- Literature evidence available