A182V (p.Ala182Val) variant of MAOB (P27338)
A182V (p.Ala182Val) in MAOB (P27338) 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 0.68 / 1. The record also includes population frequency data and structural context.
A182V (p.Ala182Val) variant details
- p.Ala182Val
- rs748373348
- ExAC rs748373348
- TOPMed rs748373348
- gnomAD rs748373348
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.70
- MetaLR 0.71
- MetaSVM 0.33
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 0.00028)
- Structural context available