R96C (p.Arg96Cys) variant of MAOA (P21397)
R96C (p.Arg96Cys) in MAOA (P21397) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R96C (p.Arg96Cys) variant details
- p.Arg96Cys
- TOPMed rs1316821465
- gnomAD rs1316821465
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.37
- MetaLR 0.66
- MetaSVM 0.15
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available