N40S (p.Asn40Ser) variant of MFN2 (Mitofusin-2)
N40S (p.Asn40Ser) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Charcot-Marie-Tooth disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N40S (p.Asn40Ser) variant details
- p.Asn40Ser
- rs1354203259
- ClinGen CA338459727
- ClinVar RCV000729317
- ClinVar RCV001862171
- Uncertain significance
- not provided; Charcot-Marie-Tooth disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.46
- CADD 19.80
- PolyPhen-2 0.04
- SIFT 0.11
- ClinVar: Uncertain significance (not provided; Charcot-Marie-Tooth disease type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)