D15E (p.Asp15Glu) variant of MAOA (P21397)
D15E (p.Asp15Glu) in MAOA (P21397) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in a breast cancer sample. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
D15E (p.Asp15Glu) variant details
- p.Asp15Glu
- rs2033179927
- UniProt VAR 036545
- TOPMed rs2033179927
- Uncertain significance
- in a breast cancer sample
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.25
- MetaLR 0.05
- MetaSVM -1.14
- CADD 23.70
- PolyPhen-2 0.84
- SIFT 0.07
- EBI: Variant of uncertain significance (in a breast cancer sample)
- UniProt: Uncertain significance (in a breast cancer sample)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)