H12Y (p.His12Tyr) variant of MAOA (P21397)
H12Y (p.His12Tyr) in MAOA (P21397) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H12Y (p.His12Tyr) variant details
- p.His12Tyr
- TOPMed rs2033179788
- gnomAD rs2033179788
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -1.07
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available