L21S (p.Leu21Ser) variant of SLC19A3 (Thiamine transporter 2)
L21S (p.Leu21Ser) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L21S (p.Leu21Ser) variant details
- p.Leu21Ser
- TOPMed rs976521434
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 19.50
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available