T10I (p.Thr10Ile) variant of TMEM43 (Transmembrane protein 43)
T10I (p.Thr10Ile) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
T10I (p.Thr10Ile) variant details
- p.Thr10Ile
- gnomAD 3-14129428-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.03
- CADD 6.64
- PolyPhen-2 0.02
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available