Y14C (p.Tyr14Cys) variant of SLC19A3 (Thiamine transporter 2)
Y14C (p.Tyr14Cys) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Y14C (p.Tyr14Cys) variant details
- p.Tyr14Cys
- gnomAD rs1247672714
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 24.50
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available