N63H (p.Asn63His) variant of MFN2 (Mitofusin-2)
N63H (p.Asn63His) 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 2A2; not specified; not provided. 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.
N63H (p.Asn63His) variant details
- p.Asn63His
- rs761216583
- ClinGen CA598773
- ClinVar RCV000472936
- ClinVar RCV000516499
- Uncertain significance
- Charcot-Marie-Tooth disease type 2A2; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.59
- CADD 24.30
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (Charcot-Marie-Tooth disease type 2A2; not specified; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: MFN2 Hereditary Motor and Sensory Neuropathy. (PMID 20301684)