S6S (p.Ser6Ser) variant of TMEM43 (Transmembrane protein 43)
S6S (p.Ser6Ser) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S6S (p.Ser6Ser) variant details
- p.Ser6Ser
- gnomAD 3-14129417-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 4.93
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available