Y38C (p.Tyr38Cys) variant of SLC19A3 (Thiamine transporter 2)
Y38C (p.Tyr38Cys) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
Y38C (p.Tyr38Cys) variant details
- p.Tyr38Cys
- rs766975844
- ClinGen CA2149405
- ClinVar RCV001769223
- ExAC rs766975844
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.50
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available