P130Q (p.Pro130Gln) variant of MAOB (P27338)
P130Q (p.Pro130Gln) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P130Q (p.Pro130Gln) variant details
- p.Pro130Gln
- TOPMed rs17852046
- gnomAD rs17852046
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.49
- MetaLR 0.15
- MetaSVM -0.76
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available