Y73H (p.Tyr73His) variant of SLC22A2 (O15244)
Y73H (p.Tyr73His) in SLC22A2 (O15244) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Y73H (p.Tyr73His) variant details
- p.Tyr73His
- TOPMed rs1160741001
- gnomAD rs1160741001
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.15
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available