T21S (p.Thr21Ser) variant of TGM1 (P22735)
T21S (p.Thr21Ser) in TGM1 (P22735) 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 0.17 / 1. The record also includes population frequency data and structural context.
T21S (p.Thr21Ser) variant details
- p.Thr21Ser
- 1000Genomes rs140542428
- ESP rs140542428
- ExAC rs140542428
- TOPMed rs140542428
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.172
- REVEL 0.23
- CADD 1.62
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available