R5T (p.Arg5Thr) variant of SLC19A3 (Thiamine transporter 2)
R5T (p.Arg5Thr) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R5T (p.Arg5Thr) variant details
- p.Arg5Thr
- gnomAD rs1461540875
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.34
- ESM-1b 0.49
- AlphaMissense 0.11
- CADD 1.39
- PolyPhen-2 0.00
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available