S48R (p.Ser48Arg) variant of SLC19A3 (Thiamine transporter 2)
S48R (p.Ser48Arg) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes structural context.
S48R (p.Ser48Arg) variant details
- p.Ser48Arg
- Ensembl rs1695721832
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- ESM-1b 0.33
- AlphaMissense 0.18
- Structural context available