T79S (p.Thr79Ser) variant of SLC2A4 (P14672)
T79S (p.Thr79Ser) in SLC2A4 (P14672) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. 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.
T79S (p.Thr79Ser) variant details
- p.Thr79Ser
- rs8192703
- ClinGen CA8340645
- ClinVar RCV003413109
- 1000Genomes rs8192703
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.13
- CADD 15.40
- PolyPhen-2 0.01
- SIFT 0.63
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available