C51S (p.Cys51Ser) variant of TGM1 (P22735)
C51S (p.Cys51Ser) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
C51S (p.Cys51Ser) variant details
- p.Cys51Ser
- TOPMed rs1566381437
- gnomAD rs1566381437
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.71
- CADD 24.50
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available