M42T (p.Met42Thr) variant of SLC6A19 (Q695T7)
M42T (p.Met42Thr) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Neutral 1 amino acid transport defect; Iminoglycinuria; Hyperglycinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
M42T (p.Met42Thr) variant details
- p.Met42Thr
- rs144373119
- ClinGen CA3182571
- ClinVar RCV001973765
- ClinVar RCV002507734
- Uncertain significance
- Neutral 1 amino acid transport defect; Iminoglycinuria; Hyperglycinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.31
- CADD 25.00
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Uncertain significance (Neutral 1 amino acid transport defect; Iminoglycinuria; Hypergly)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:JAPANESE population (allele frequency 0.018)
- Structural context available