T79N (p.Thr79Asn) variant of SLC2A4 (P14672)
T79N (p.Thr79Asn) in SLC2A4 (P14672) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T79N (p.Thr79Asn) variant details
- p.Thr79Asn
- 1000Genomes rs8192703
- ESP rs8192703
- ExAC rs8192703
- TOPMed rs8192703
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.15
- CADD 15.20
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available