Y100H (p.Tyr100His) variant of MAOA (P21397)
Y100H (p.Tyr100His) in MAOA (P21397) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Brunner syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
Y100H (p.Tyr100His) variant details
- p.Tyr100His
- TOPMed rs1202580246
- gnomAD rs1202580246
- Conflicting interpretations
- Brunner syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.197
- REVEL 0.10
- MetaLR 0.01
- MetaSVM -0.96
- CADD 20.00
- PolyPhen-2 0.10
- SIFT 0.48
- ClinVar: Conflicting classifications of pathogenicity (Brunner syndrome; Inborn genetic diseases)
- UniProt: Conflicting interpretations
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available