T52T (p.Thr52Thr) variant of TMEM43 (Transmembrane protein 43)
T52T (p.Thr52Thr) in TMEM43 (Transmembrane protein 43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T52T (p.Thr52Thr) variant details
- p.Thr52Thr
- rs1431651766
- gnomAD 3-14129555-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.312
- CADD 12.40
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available