E5K (p.Glu5Lys) variant of MAOA (P21397)
E5K (p.Glu5Lys) in MAOA (P21397) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- ExAC rs775694295
- TOPMed rs775694295
- gnomAD rs775694295
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.10
- MetaLR 0.02
- MetaSVM -1.03
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6.5e-05)
- Structural context available