S7S (p.Ser7Ser) variant of TMEM43 (Transmembrane protein 43)
S7S (p.Ser7Ser) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
S7S (p.Ser7Ser) variant details
- p.Ser7Ser
- rs371236613
- gnomAD 3-14129420-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.115
- CADD 4.92
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Literature evidence available