P27L (p.Pro27Leu) variant of TGM1 (P22735)
P27L (p.Pro27Leu) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- Ensembl rs1008918554
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.37
- CADD 22.90
- PolyPhen-2 0.98
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available