N252D (p.Asn252Asp) variant of MFN2 (Mitofusin-2)
N252D (p.Asn252Asp) in MFN2 (Mitofusin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Auditory neuropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
N252D (p.Asn252Asp) variant details
- p.Asn252Asp
- rs2523037228
- ClinGen CA338439127
- ClinVar RCV003484473
- Likely pathogenic
- Auditory neuropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- REVEL 0.85
- CADD 27.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Auditory neuropathy)
- EBI: Likely pathogenic (in CMT2A2A)
- UniProt: Likely pathogenic (in CMT2A2A)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available