S40A (p.Ser40Ala) variant of SLC19A3 (Thiamine transporter 2)
S40A (p.Ser40Ala) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S40A (p.Ser40Ala) variant details
- p.Ser40Ala
- ExAC rs761309307
- gnomAD rs761309307
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.30
- PolyPhen-2 0.01
- SIFT 0.44
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available