S31L (p.Ser31Leu) variant of SLC19A3 (Thiamine transporter 2)
S31L (p.Ser31Leu) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S31L (p.Ser31Leu) variant details
- p.Ser31Leu
- gnomAD rs1404181786
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.15
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available