R88H (p.Arg88His) variant of TGM1 (P22735)
R88H (p.Arg88His) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R88H (p.Arg88His) variant details
- p.Arg88His
- TOPMed rs1056539762
- gnomAD rs1056539762
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.11
- CADD 8.95
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available