M106I (p.Met106Ile) variant of SLC19A3 (Thiamine transporter 2)
M106I (p.Met106Ile) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
M106I (p.Met106Ile) variant details
- p.Met106Ile
- NCI-TCGA Cosmic COSV5145
- cosmic curated COSV51453
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.63
- CADD 23.20
- PolyPhen-2 0.58
- SIFT 0.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available