A54T (p.Ala54Thr) variant of MFN2 (Mitofusin-2)
A54T (p.Ala54Thr) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
A54T (p.Ala54Thr) variant details
- p.Ala54Thr
- rs61733203
- ClinGen CA323379
- ClinVar RCV000653842
- ClinVar RCV001257246
- Conflicting interpretations
- Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.39
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.62
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Charcot-Marie-Tooth disease type 2; not)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)