R29S (p.Arg29Ser) variant of SLC19A3 (Thiamine transporter 2)
R29S (p.Arg29Ser) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R29S (p.Arg29Ser) variant details
- p.Arg29Ser
- gnomAD rs1351230521
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.93
- CADD 23.30
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available