T60A (p.Thr60Ala) variant of SLC19A3 (Thiamine transporter 2)
T60A (p.Thr60Ala) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
T60A (p.Thr60Ala) variant details
- p.Thr60Ala
- gnomAD rs1177722977
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.45
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available