A54V (p.Ala54Val) variant of MFN2 (Mitofusin-2)
A54V (p.Ala54Val) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- rs747176196
- ClinGen CA598747
- ClinVar RCV003028802
- ExAC rs747176196
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.38
- CADD 18.80
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)