R109L (p.Arg109Leu) variant of MAOA (P21397)
R109L (p.Arg109Leu) in MAOA (P21397) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R109L (p.Arg109Leu) variant details
- p.Arg109Leu
- gnomAD X-43711891-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.44
- MetaLR 0.62
- MetaSVM -0.23
- CADD 21.50
- PolyPhen-2 0.11
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available