M41I (p.Met41Ile) variant of TMEM43 (Transmembrane protein 43)
M41I (p.Met41Ile) in TMEM43 (Transmembrane protein 43) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
M41I (p.Met41Ile) variant details
- p.Met41Ile
- gnomAD 3-14129522-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.06
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.97
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available