P20S (p.Pro20Ser) variant of TGM1 (P22735)
P20S (p.Pro20Ser) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- TOPMed rs1297093834
- gnomAD rs1297093834
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.35
- CADD 7.15
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available