M41L (p.Met41Leu) variant of TMEM43 (Transmembrane protein 43)
M41L (p.Met41Leu) in TMEM43 (Transmembrane protein 43) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
M41L (p.Met41Leu) variant details
- p.Met41Leu
- ESP rs144334386
- ExAC rs144334386
- TOPMed rs144334386
- gnomAD rs144334386
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0602
- REVEL 0.01
- CADD 6.16
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available