S249F (p.Ser249Phe) variant of MFN2 (Mitofusin-2)
S249F (p.Ser249Phe) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2A2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
S249F (p.Ser249Phe) variant details
- p.Ser249Phe
- rs794729198
- ClinGen CA275457
- cosmic curated COSV10458
- ClinVar RCV000184017
- Pathogenic/Likely pathogenic
- Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease type 2A2
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 0.97
- SIFT 0.00
- EVE 0.81
- ClinVar: Pathogenic/Likely pathogenic (Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)