P29L (p.Pro29Leu) variant of TGM1 (P22735)
P29L (p.Pro29Leu) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- TOPMed rs200873762
- gnomAD rs200873762
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.30
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available