C51R (p.Cys51Arg) variant of TGM1 (P22735)
C51R (p.Cys51Arg) 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.
C51R (p.Cys51Arg) variant details
- p.Cys51Arg
- TOPMed rs1566381437
- gnomAD rs1566381437
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.72
- CADD 25.00
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available