R11S (p.Arg11Ser) variant of TGM1 (P22735)
R11S (p.Arg11Ser) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R11S (p.Arg11Ser) variant details
- p.Arg11Ser
- ExAC rs747931513
- TOPMed rs747931513
- gnomAD rs747931513
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.43
- CADD 24.50
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available