A140V (p.Ala140Val) variant of MAOB (P27338)
A140V (p.Ala140Val) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A140V (p.Ala140Val) variant details
- p.Ala140Val
- TOPMed rs1378086580
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.85
- MetaLR 0.90
- MetaSVM 0.99
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 9.4e-05)
- Structural context available