T206A (p.Thr206Ala) variant of MFN2 (Mitofusin-2)
T206A (p.Thr206Ala) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2A2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes published literature and structural context.
T206A (p.Thr206Ala) variant details
- p.Thr206Ala
- rs1569842296
- ClinGen CA338437768
- ClinVar RCV000986243
- ClinVar RCV005056714
- Likely pathogenic
- Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2A2
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- AlphaMissense 0.55
- MetaLR 0.83
- MetaSVM 0.70
- PolyPhen-2 0.18
- SIFT 0.01
- EVE 0.54
- ClinVar: Likely pathogenic (Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease)
- EBI: Likely pathogenic (in HMSN6A)
- UniProt: Likely pathogenic (in HMSN6A)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)