R109Q (p.Arg109Gln) variant of MAOA (P21397)
R109Q (p.Arg109Gln) in MAOA (P21397) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R109Q (p.Arg109Gln) variant details
- p.Arg109Gln
- rs1039995231
- TOPMed rs1039995231
- gnomAD rs1039995231
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.30
- MetaLR 0.52
- MetaSVM -0.49
- CADD 18.20
- PolyPhen-2 0.03
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available