K16Q (p.Lys16Gln) variant of MFN2 (Mitofusin-2)
K16Q (p.Lys16Gln) 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 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
K16Q (p.Lys16Gln) variant details
- p.Lys16Gln
- rs748233037
- ClinGen CA598731
- ClinVar RCV001219302
- ExAC rs748233037
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.56
- CADD 22.90
- PolyPhen-2 0.24
- SIFT 0.12
- 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 9.9e-07)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)