R120K (p.Arg120Lys) variant of MAOB (P27338)
R120K (p.Arg120Lys) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R120K (p.Arg120Lys) variant details
- p.Arg120Lys
- ExAC rs768327519
- gnomAD rs768327519
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.67
- MetaLR 0.75
- MetaSVM 0.41
- CADD 18.10
- PolyPhen-2 0.37
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available