H14H (p.His14His) variant of TMEM43 (Transmembrane protein 43)
H14H (p.His14His) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
H14H (p.His14His) variant details
- p.His14His
- rs773252383
- gnomAD 3-14129441-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 3.79
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available