V65M (p.Val65Met) variant of SLC19A3 (Thiamine transporter 2)
V65M (p.Val65Met) 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 0.48 / 1. The record also includes population frequency data and structural context.
V65M (p.Val65Met) variant details
- p.Val65Met
- TOPMed rs1695591331
- gnomAD rs1695591331
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.12
- CADD 26.10
- PolyPhen-2 0.61
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available