P81S (p.Pro81Ser) variant of SLC19A3 (Thiamine transporter 2)
P81S (p.Pro81Ser) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P81S (p.Pro81Ser) variant details
- p.Pro81Ser
- gnomAD rs1307893537
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.86
- ESM-1b 1.00
- AlphaMissense 0.54
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available