G96S (p.Gly96Ser) variant of TGM1 (P22735)
G96S (p.Gly96Ser) in TGM1 (P22735) 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 0.24 / 1. The record also includes population frequency data and structural context.
G96S (p.Gly96Ser) variant details
- p.Gly96Ser
- rs547714904
- 1000Genomes rs547714904
- ExAC rs547714904
- TOPMed rs547714904
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.25
- CADD 6.76
- PolyPhen-2 0.02
- SIFT 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available