D124A (p.Asp124Ala) variant of MAOB (P27338)
D124A (p.Asp124Ala) in MAOB (P27338) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D124A (p.Asp124Ala) variant details
- p.Asp124Ala
- ExAC rs780074639
- TOPMed rs780074639
- gnomAD rs780074639
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.27
- MetaLR 0.46
- MetaSVM -0.52
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00026)
- Structural context available