R29I (p.Arg29Ile) variant of SLC19A3 (Thiamine transporter 2)
R29I (p.Arg29Ile) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R29I (p.Arg29Ile) variant details
- p.Arg29Ile
- cosmic curated COSV99296
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.70
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available