P25L (p.Pro25Leu) variant of TGM1 (P22735)
P25L (p.Pro25Leu) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P25L (p.Pro25Leu) variant details
- p.Pro25Leu
- TOPMed rs1463129797
- gnomAD rs1463129797
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.32
- CADD 22.20
- PolyPhen-2 0.99
- SIFT 0.62
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available