T55S (p.Thr55Ser) variant of MFN2 (Mitofusin-2)
T55S (p.Thr55Ser) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Charcot-Marie-Tooth disease type 2; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T55S (p.Thr55Ser) variant details
- p.Thr55Ser
- rs776423551
- ClinGen CA598749
- ClinVar RCV000534867
- ClinVar RCV000711271
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.24
- CADD 9.68
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; not provided; Inborn genetic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)