G10S (p.Gly10Ser) variant of SLC6A19 (Q695T7)
G10S (p.Gly10Ser) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Neutral 1 amino acid transport defect; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
G10S (p.Gly10Ser) variant details
- p.Gly10Ser
- rs138944821
- ClinGen CA3182535
- ClinVar RCV002036859
- ClinVar RCV004044897
- Uncertain significance
- not provided; Neutral 1 amino acid transport defect; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 24.40
- PolyPhen-2 0.56
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Neutral 1 amino acid transport defect; Inborn gene)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00022)
- 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)