M36R (p.Met36Arg) variant of TMEM43 (Transmembrane protein 43)
M36R (p.Met36Arg) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
M36R (p.Met36Arg) variant details
- p.Met36Arg
- gnomAD 3-14129506-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.19
- CADD 24.60
- PolyPhen-2 0.20
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available