P19L (p.Pro19Leu) variant of TGM1 (P22735)
P19L (p.Pro19Leu) 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.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- TOPMed rs1321365902
- gnomAD rs1321365902
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.39
- CADD 23.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available