K50N (p.Lys50Asn) variant of MAOB (P27338)
K50N (p.Lys50Asn) in MAOB (P27338) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
K50N (p.Lys50Asn) variant details
- p.Lys50Asn
- TOPMed rs2035101907
- gnomAD rs2035101907
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.077
- REVEL 0.04
- MetaLR 0.01
- MetaSVM -0.99
- CADD 1.71
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available