I11T (p.Ile11Thr) variant of MFN2 (Mitofusin-2)
I11T (p.Ile11Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I11T (p.Ile11Thr) variant details
- p.Ile11Thr
- rs777625403
- ClinGen CA18035498
- ClinVar RCV000794412
- ExAC rs777625403
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.35
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)