S10N (p.Ser10Asn) variant of SLC19A3 (Thiamine transporter 2)
S10N (p.Ser10Asn) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S10N (p.Ser10Asn) variant details
- p.Ser10Asn
- cosmic curated COSV51454
- ExAC rs748439898
- TOPMed rs748439898
- gnomAD rs748439898
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.16
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available