W12C (p.Trp12Cys) variant of SLC19A3 (Thiamine transporter 2)
W12C (p.Trp12Cys) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W12C (p.Trp12Cys) variant details
- p.Trp12Cys
- ExAC rs778816786
- gnomAD rs778816786
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.77
- MetaLR 0.91
- MetaSVM 1.03
- CADD 28.40
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available