A45S (p.Ala45Ser) variant of TGM1 (P22735)
A45S (p.Ala45Ser) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A45S (p.Ala45Ser) variant details
- p.Ala45Ser
- TOPMed rs1444351615
- gnomAD rs1444351615
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.32
- CADD 20.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available