S68T (p.Ser68Thr) variant of TGM1 (P22735)
S68T (p.Ser68Thr) in TGM1 (P22735) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S68T (p.Ser68Thr) variant details
- p.Ser68Thr
- ExAC rs778749307
- TOPMed rs778749307
- gnomAD rs778749307
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.25
- CADD 15.20
- PolyPhen-2 0.05
- SIFT 0.76
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available