R96S (p.Arg96Ser) variant of MAOA (P21397)
R96S (p.Arg96Ser) in MAOA (P21397) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R96S (p.Arg96Ser) variant details
- p.Arg96Ser
- gnomAD X-43693408-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.33
- MetaLR 0.64
- MetaSVM 0.03
- CADD 14.80
- PolyPhen-2 0.01
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available