T71A (p.Thr71Ala) variant of MFN2 (Mitofusin-2)
T71A (p.Thr71Ala) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
T71A (p.Thr71Ala) variant details
- p.Thr71Ala
- rs548809273
- ClinGen CA598777
- ClinVar RCV000703199
- 1000Genomes rs548809273
- Uncertain significance
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.52
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)