A64T (p.Ala64Thr) variant of MFN2 (Mitofusin-2)
A64T (p.Ala64Thr) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A64T (p.Ala64Thr) variant details
- p.Ala64Thr
- rs922058129
- ClinGen CA18038628
- ClinVar RCV001929176
- ClinVar RCV004720979
- Uncertain significance
- not provided; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.31
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.53
- ClinVar: Uncertain significance (not provided; Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)