A54A (p.Ala54Ala) variant of MFN2 (Mitofusin-2)
A54A (p.Ala54Ala) in MFN2 (Mitofusin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
A54A (p.Ala54Ala) variant details
- p.Ala54Ala
- rs770648317
- gnomAD 1-11989330-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.201
- CADD 8.20
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available