p.Ser53 Ala54insLeuAsp variant of MFN2 (Mitofusin-2)
p.Ser53 Ala54insLeuAsp in MFN2 (Mitofusin-2) is a missense 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.
p.Ser53 Ala54insLeuAsp variant details
- rs1557516120
- gnomAD 1-11989327-C-CCTG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.203
- CADD 17.30
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available