N63S (p.Asn63Ser) variant of MFN2 (Mitofusin-2)
N63S (p.Asn63Ser) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
N63S (p.Asn63Ser) variant details
- p.Asn63Ser
- gnomAD 1-11992567-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.47
- MetaLR 0.93
- MetaSVM 1.05
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available