I11V (p.Ile11Val) variant of MFN2 (Mitofusin-2)
I11V (p.Ile11Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
I11V (p.Ile11Val) variant details
- p.Ile11Val
- rs763735861
- ClinGen CA598724
- ClinVar RCV001204772
- ClinVar RCV003482340
- Uncertain significance
- Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.33
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)