F47L (p.Phe47Leu) variant of SLC9A3 (Sodium/hydrogen exchanger 3)
F47L (p.Phe47Leu) in SLC9A3 (Sodium/hydrogen exchanger 3) is a missense change. Clinical records from ClinVar, EBI, 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
F47L (p.Phe47Leu) variant details
- p.Phe47Leu
- rs1733966635
- ClinGen CA359018226
- ClinVar RCV002939869
- TOPMed rs1733966635
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.08
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)