Y106F (p.Tyr106Phe) variant of MAOA (P21397)
Y106F (p.Tyr106Phe) 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 0.45 / 1. The record also includes population frequency data and structural context.
Y106F (p.Tyr106Phe) variant details
- p.Tyr106Phe
- ESP rs368236433
- ExAC rs368236433
- TOPMed rs368236433
- gnomAD rs368236433
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.48
- MetaLR 0.64
- MetaSVM -0.06
- CADD 16.60
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available