P20L (p.Pro20Leu) variant of TGM1 (P22735)
P20L (p.Pro20Leu) in TGM1 (P22735) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- rs1445996067
- gnomAD rs1445996067
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- AlphaMissense 0.09
- MetaLR 0.32
- MetaSVM -0.75
- PolyPhen-2 0.04
- SIFT 0.01
- MutPred 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available