V103L (p.Val103Leu) variant of SLC19A3 (Thiamine transporter 2)
V103L (p.Val103Leu) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V103L (p.Val103Leu) variant details
- p.Val103Leu
- gnomAD rs1327117771
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.14
- CADD 15.80
- PolyPhen-2 0.03
- SIFT 0.63
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available