N17K (p.Asn17Lys) variant of MFN2 (Mitofusin-2)
N17K (p.Asn17Lys) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N17K (p.Asn17Lys) variant details
- p.Asn17Lys
- gnomAD 1-11989219-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.33
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available