S17H (p.Ser17His) variant of SLC9A6 (Sodium/hydrogen exchanger 6)
S17H (p.Ser17His) in SLC9A6 (Sodium/hydrogen exchanger 6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S17H (p.Ser17His) variant details
- p.Ser17His
- rs1157995682
- gnomAD X-135985527-G-GCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available