L66V (p.Leu66Val) variant of SLC19A3 (Thiamine transporter 2)
L66V (p.Leu66Val) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L66V (p.Leu66Val) variant details
- p.Leu66Val
- TOPMed rs1390228508
- gnomAD rs1390228508
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 21.90
- PolyPhen-2 0.49
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available