L167V (p.Leu167Val) variant of MAOB (P27338)
L167V (p.Leu167Val) in MAOB (P27338) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
L167V (p.Leu167Val) variant details
- p.Leu167Val
- TOPMed rs1316591298
- gnomAD rs1316591298
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.43
- MetaLR 0.61
- MetaSVM -0.21
- CADD 15.90
- PolyPhen-2 0.05
- SIFT 0.09
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00049)
- Structural context available