R56S (p.Arg56Ser) variant of MAOA (P21397)
R56S (p.Arg56Ser) in MAOA (P21397) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R56S (p.Arg56Ser) variant details
- p.Arg56Ser
- gnomAD X-43683607-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.68
- MetaLR 0.66
- MetaSVM 0.01
- CADD 24.00
- PolyPhen-2 0.13
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available