S30S (p.Ser30Ser) variant of TMEM43 (Transmembrane protein 43)
S30S (p.Ser30Ser) 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.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs373839281
- gnomAD 3-14129489-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.103
- CADD 3.20
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available