R79H (p.Arg79His) variant of MAOA (P21397)
R79H (p.Arg79His) in MAOA (P21397) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R79H (p.Arg79His) variant details
- p.Arg79His
- rs1290392482
- ClinGen CA413004607
- ClinVar RCV002462422
- gnomAD rs1290392482
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- REVEL 0.80
- MetaLR 0.89
- MetaSVM 0.99
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available