N53N (p.Asn53Asn) variant of SLC19A3 (Thiamine transporter 2)
N53N (p.Asn53Asn) in SLC19A3 (Thiamine transporter 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
N53N (p.Asn53Asn) variant details
- p.Asn53Asn
- gnomAD 2-227686162-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.349
- CADD 3.79
- Population evidence available
- Structural context available
- Literature evidence available