D124G (p.Asp124Gly) variant of MAOB (P27338)
D124G (p.Asp124Gly) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
D124G (p.Asp124Gly) variant details
- p.Asp124Gly
- ExAC rs780074639
- TOPMed rs780074639
- gnomAD rs780074639
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.30
- MetaLR 0.55
- MetaSVM -0.26
- CADD 18.90
- PolyPhen-2 0.06
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available