S83A (p.Ser83Ala) variant of MFN2 (Mitofusin-2)
S83A (p.Ser83Ala) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S83A (p.Ser83Ala) variant details
- p.Ser83Ala
- gnomAD 1-11992626-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.18
- MetaLR 0.61
- MetaSVM -0.09
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Literature evidence available