A26V (p.Ala26Val) variant of MFN2 (Mitofusin-2)
A26V (p.Ala26Val) 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.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- gnomAD 1-11989245-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.58
- REVEL 0.47
- CADD 21.50
- PolyPhen-2 0.02
- SIFT 0.48
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available