V217M (p.Val217Met) variant of MAOB (P27338)
V217M (p.Val217Met) 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.
V217M (p.Val217Met) variant details
- p.Val217Met
- ExAC rs765931652
- TOPMed rs765931652
- gnomAD rs765931652
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.18
- MetaLR 0.06
- MetaSVM -1.08
- CADD 23.00
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the East Asian population (allele frequency 9.9e-05)
- Structural context available