T60M (p.Thr60Met) variant of MFN2 (Mitofusin-2)
T60M (p.Thr60Met) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary motor and sensory neuropathy with optic atrophy; Inborn genetic disea. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
T60M (p.Thr60Met) variant details
- p.Thr60Met
- rs138345244
- ClinGen CA598770
- cosmic curated COSV10876
- ClinVar RCV000236416
- Conflicting interpretations
- Hereditary motor and sensory neuropathy with optic atrophy; Inborn genetic disea
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.71
- CADD 24.00
- PolyPhen-2 0.78
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Hereditary motor and sensory neuropathy with optic atrophy; Inbo)
- EBI: Benign
- UniProt: Benign
- 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)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)