T23A (p.Thr23Ala) variant of SLC6A19 (Q695T7)
T23A (p.Thr23Ala) in SLC6A19 (Q695T7) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T23A (p.Thr23Ala) variant details
- p.Thr23Ala
- rs748068856
- ClinGen CA3182550
- ClinVar RCV004464293
- ExAC rs748068856
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.17
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.76
- 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)