R29K (p.Arg29Lys) variant of SLC19A3 (Thiamine transporter 2)
R29K (p.Arg29Lys) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R29K (p.Arg29Lys) variant details
- p.Arg29Lys
- cosmic curated COSV11321
- ExAC rs751334362
- gnomAD rs751334362
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 16.80
- PolyPhen-2 0.16
- SIFT 0.37
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available