Y49D (p.Tyr49Asp) variant of MFN2 (Mitofusin-2)
Y49D (p.Tyr49Asp) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
Y49D (p.Tyr49Asp) variant details
- p.Tyr49Asp
- rs2100802936
- ClinGen CA338459932
- ClinVar RCV002030623
- ClinVar RCV005057884
- Conflicting interpretations
- not provided; Inborn genetic diseases; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.871
- AlphaMissense 0.96
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.59
- ClinVar: Conflicting classifications of pathogenicity (not provided; Inborn genetic diseases; Charcot-Marie-Tooth disea)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)