M21L (p.Met21Leu) variant of MFN2 (Mitofusin-2)
M21L (p.Met21Leu) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
M21L (p.Met21Leu) variant details
- p.Met21Leu
- gnomAD 1-11989229-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.62
- CADD 23.70
- PolyPhen-2 0.47
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available