T19A (p.Thr19Ala) variant of TMEM43 (Transmembrane protein 43)
T19A (p.Thr19Ala) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
T19A (p.Thr19Ala) variant details
- p.Thr19Ala
- gnomAD rs1284316021
- Missense
- Variant Prioritization Score for Impact Estimate 0.0696
- REVEL 0.04
- CADD 6.31
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available