R88C (p.Arg88Cys) variant of TGM1 (P22735)
R88C (p.Arg88Cys) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R88C (p.Arg88Cys) variant details
- p.Arg88Cys
- ExAC rs768743174
- TOPMed rs768743174
- gnomAD rs768743174
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.28
- CADD 20.40
- PolyPhen-2 0.25
- SIFT 0.04
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available