A18V (p.Ala18Val) variant of MAOB (P27338)
A18V (p.Ala18Val) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A18V (p.Ala18Val) variant details
- p.Ala18Val
- ExAC rs762962154
- gnomAD rs762962154
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.53
- MetaLR 0.74
- MetaSVM 0.55
- CADD 24.30
- PolyPhen-2 0.30
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available