K30R (p.Lys30Arg) variant of MFN2 (Mitofusin-2)
K30R (p.Lys30Arg) in MFN2 (Mitofusin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
K30R (p.Lys30Arg) variant details
- p.Lys30Arg
- gnomAD rs1303507580
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.48
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.13
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available