T19N (p.Thr19Asn) variant of TMEM43 (Transmembrane protein 43)
T19N (p.Thr19Asn) in TMEM43 (Transmembrane protein 43) is a missense 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.
T19N (p.Thr19Asn) variant details
- p.Thr19Asn
- gnomAD 3-14129455-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.04
- CADD 4.73
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available