L85S (p.Leu85Ser) variant of SLC19A3 (Thiamine transporter 2)
L85S (p.Leu85Ser) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
L85S (p.Leu85Ser) variant details
- p.Leu85Ser
- ExAC rs758769189
- gnomAD rs758769189
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.40
- CADD 22.90
- PolyPhen-2 0.85
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available