S20S (p.Ser20Ser) variant of TMEM43 (Transmembrane protein 43)
S20S (p.Ser20Ser) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S20S (p.Ser20Ser) variant details
- p.Ser20Ser
- rs766364454
- gnomAD 3-14129459-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0952
- CADD 2.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available