N17D (p.Asn17Asp) variant of MFN2 (Mitofusin-2)
N17D (p.Asn17Asp) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
N17D (p.Asn17Asp) variant details
- p.Asn17Asp
- rs772477199
- ClinGen CA598732
- ClinVar RCV002155819
- ExAC rs772477199
- Likely benign
- Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.39
- CADD 20.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Charcot-Marie-Tooth disease type 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)