Q22H (p.Gln22His) variant of TMEM43 (Transmembrane protein 43)
Q22H (p.Gln22His) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Q22H (p.Gln22His) variant details
- p.Gln22His
- TOPMed rs1199827592
- gnomAD rs1199827592
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.05
- CADD 20.30
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available