K80N (p.Lys80Asn) variant of SLC19A3 (Thiamine transporter 2)
K80N (p.Lys80Asn) in SLC19A3 (Thiamine transporter 2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
K80N (p.Lys80Asn) variant details
- p.Lys80Asn
- NCI-TCGA Cosmic COSV9929
- cosmic curated COSV99295
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.983
- ESM-1b 1.00
- AlphaMissense 0.96
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available