K38E (p.Lys38Glu) variant of MFN2 (Mitofusin-2)
K38E (p.Lys38Glu) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
K38E (p.Lys38Glu) variant details
- p.Lys38Glu
- gnomAD 1-11989280-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.58
- CADD 24.30
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available