S21P (p.Ser21Pro) variant of TMEM43 (Transmembrane protein 43)
S21P (p.Ser21Pro) in TMEM43 (Transmembrane protein 43) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
S21P (p.Ser21Pro) variant details
- p.Ser21Pro
- gnomAD 3-14129459-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.165
- CADD 11.90
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available