S2F (p.Ser2Phe) variant of MFN2 (Mitofusin-2)
S2F (p.Ser2Phe) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S2F (p.Ser2Phe) variant details
- p.Ser2Phe
- ExAC rs758996830
- TOPMed rs758996830
- gnomAD rs758996830
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.51
- CADD 24.20
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available