T52I (p.Thr52Ile) variant of TMEM43 (Transmembrane protein 43)
T52I (p.Thr52Ile) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- gnomAD rs1410487829
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.23
- CADD 20.40
- PolyPhen-2 0.12
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available