H76Y (p.His76Tyr) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
H76Y (p.His76Tyr) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
H76Y (p.His76Tyr) variant details
- p.His76Tyr
- TOPMed rs1739773374
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.49
- CADD 23.90
- PolyPhen-2 0.57
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available