P33S (p.Pro33Ser) variant of SLC19A3 (Thiamine transporter 2)
P33S (p.Pro33Ser) in SLC19A3 (Thiamine transporter 2) is a missense change. 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.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- gnomAD rs1559252781
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.22
- CADD 23.00
- PolyPhen-2 0.86
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available