T19S (p.Thr19Ser) variant of TMEM43 (Transmembrane protein 43)
T19S (p.Thr19Ser) 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 and structural context.
T19S (p.Thr19Ser) variant details
- p.Thr19Ser
- ExAC rs759612558
- gnomAD rs759612558
- Missense
- Variant Prioritization Score for Impact Estimate 0.102
- REVEL 0.04
- CADD 2.48
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available