V103M (p.Val103Met) variant of SLC19A3 (Thiamine transporter 2)
V103M (p.Val103Met) 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 0.57 / 1. The record also includes population frequency data and structural context.
V103M (p.Val103Met) variant details
- p.Val103Met
- rs1327117771
- ClinGen CA350877497
- ClinVar RCV003481684
- gnomAD rs1327117771
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 22.80
- PolyPhen-2 0.73
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available