E58D (p.Glu58Asp) variant of MAOA (P21397)
E58D (p.Glu58Asp) 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 0.11 / 1. The record also includes population frequency data and structural context.
E58D (p.Glu58Asp) variant details
- p.Glu58Asp
- rs572229710
- Ensembl rs572229710
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.12
- MetaLR 0.01
- MetaSVM -0.92
- CADD 0.09
- PolyPhen-2 0.00
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 7.6e-05)
- Structural context available