A13T (p.Ala13Thr) variant of SLC6A19 (Q695T7)
A13T (p.Ala13Thr) 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; not provided; Neutral 1 amino acid transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
A13T (p.Ala13Thr) variant details
- p.Ala13Thr
- rs200291939
- ClinGen CA3182539
- NCI-TCGA Cosmic COSV5867
- ClinVar RCV002597569
- Uncertain significance
- Inborn genetic diseases; not provided; Neutral 1 amino acid transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.128
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 2.67
- PolyPhen-2 0.02
- SIFT 0.55
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Neutral 1 amino acid tran)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:STU population (allele frequency 0.0051)
- 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)