E87K (p.Glu87Lys) variant of MAOA (P21397)
E87K (p.Glu87Lys) in MAOA (P21397) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
E87K (p.Glu87Lys) variant details
- p.Glu87Lys
- gnomAD X-43693381-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.06
- MetaLR 0.02
- MetaSVM -0.96
- CADD 7.12
- PolyPhen-2 0.01
- SIFT 0.52
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available
- Literature evidence available