L68P (p.Leu68Pro) variant of SLC19A3 (Thiamine transporter 2)
L68P (p.Leu68Pro) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L68P (p.Leu68Pro) variant details
- p.Leu68Pro
- cosmic curated COSV51455
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.51
- ESM-1b 1.00
- AlphaMissense 0.21
- CADD 22.00
- PolyPhen-2 0.03
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available