G70V (p.Gly70Val) variant of TGM1 (P22735)
G70V (p.Gly70Val) in TGM1 (P22735) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G70V (p.Gly70Val) variant details
- p.Gly70Val
- ExAC rs781552476
- TOPMed rs781552476
- gnomAD rs781552476
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.12
- CADD 3.46
- PolyPhen-2 0.05
- SIFT 0.43
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available