M21V (p.Met21Val) variant of MFN2 (Mitofusin-2)
M21V (p.Met21Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
M21V (p.Met21Val) variant details
- p.Met21Val
- rs1569802518
- ClinGen CA338459417
- ClinVar RCV000789400
- Ensembl rs1569802518
- Uncertain significance
- Charcot-Marie-Tooth disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.64
- CADD 23.40
- PolyPhen-2 0.57
- SIFT 0.17
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease)
- 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)