P20A (p.Pro20Ala) variant of TGM1 (P22735)
P20A (p.Pro20Ala) 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.
P20A (p.Pro20Ala) variant details
- p.Pro20Ala
- TOPMed rs1297093834
- gnomAD rs1297093834
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.38
- CADD 4.80
- PolyPhen-2 0.01
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available