P130L (p.Pro130Leu) variant of MAOB (P27338)
P130L (p.Pro130Leu) 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 0.52 / 1. The record also includes population frequency data and structural context.
P130L (p.Pro130Leu) variant details
- p.Pro130Leu
- rs17852046
- TOPMed rs17852046
- gnomAD rs17852046
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.48
- MetaLR 0.12
- MetaSVM -0.82
- CADD 26.00
- PolyPhen-2 0.57
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 3.9e-05)
- Structural context available