P19H (p.Pro19His) variant of TGM1 (P22735)
P19H (p.Pro19His) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P19H (p.Pro19His) variant details
- p.Pro19His
- TOPMed rs1321365902
- gnomAD rs1321365902
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.37
- CADD 23.10
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available