Q22Q (p.Gln22Gln) variant of TMEM43 (Transmembrane protein 43)
Q22Q (p.Gln22Gln) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q22Q (p.Gln22Gln) variant details
- p.Gln22Gln
- rs1199827592
- gnomAD 3-14129465-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 8.65
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available