L73F (p.Leu73Phe) variant of SLC19A3 (Thiamine transporter 2)
L73F (p.Leu73Phe) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L73F (p.Leu73Phe) variant details
- p.Leu73Phe
- rs373943165
- ClinGen CA2149351
- ClinVar RCV001774442
- ClinVar RCV002540479
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.69
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 24.10
- PolyPhen-2 0.92
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- 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)