I91V (p.Ile91Val) variant of SLC19A3 (Thiamine transporter 2)
I91V (p.Ile91Val) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from ClinVar, EBI, 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 0.17 / 1. The record also includes population frequency data and structural context.
I91V (p.Ile91Val) variant details
- p.Ile91Val
- rs1695586986
- ClinVar RCV004588782
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 7.78
- PolyPhen-2 0.03
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available