P28P (p.Pro28Pro) variant of MFN2 (Mitofusin-2)
P28P (p.Pro28Pro) in MFN2 (Mitofusin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
P28P (p.Pro28Pro) variant details
- p.Pro28Pro
- rs554067157
- gnomAD 1-11989252-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0969
- CADD 2.29
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available