H20N (p.His20Asn) variant of MFN2 (Mitofusin-2)
H20N (p.His20Asn) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
H20N (p.His20Asn) variant details
- p.His20Asn
- gnomAD 1-11989226-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.45
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available