H12R (p.His12Arg) variant of MAOA (P21397)
H12R (p.His12Arg) 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.
H12R (p.His12Arg) variant details
- p.His12Arg
- gnomAD X-43656376-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -1.04
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 4.8e-06)
- Structural context available
- Literature evidence available