I15M (p.Ile15Met) variant of SLC6A19 (Q695T7)
I15M (p.Ile15Met) in SLC6A19 (Q695T7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; Neutral 1 amino acid transport defect; Hyperglycinuria. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
I15M (p.Ile15Met) variant details
- p.Ile15Met
- rs138390777
- ClinGen CA3182545
- ClinVar RCV000900429
- ClinVar RCV002502652
- Benign/Likely benign
- not provided; Neutral 1 amino acid transport defect; Hyperglycinuria
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.29
- CADD 21.50
- PolyPhen-2 0.62
- SIFT 0.02
- ClinVar: Benign/Likely benign (not provided; Neutral 1 amino acid transport defect; Hyperglycin)
- EBI: Benign
- UniProt: Benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.019)
- Structural context available