N53S (p.Asn53Ser) variant of SLC19A3 (Thiamine transporter 2)
N53S (p.Asn53Ser) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
N53S (p.Asn53Ser) variant details
- p.Asn53Ser
- rs2106315871
- gnomAD 2-227686163-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.10
- ESM-1b 1.00
- AlphaMissense 0.07
- CADD 3.76
- Population evidence available
- Structural context available
- Literature evidence available