M115I (p.Met115Ile) variant of SLC19A3 (Thiamine transporter 2)
M115I (p.Met115Ile) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
M115I (p.Met115Ile) variant details
- p.Met115Ile
- ExAC rs753042231
- TOPMed rs753042231
- gnomAD rs753042231
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 1.77
- PolyPhen-2 0.01
- SIFT 0.74
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available