N48D (p.Asn48Asp) variant of MAOB (P27338)
N48D (p.Asn48Asp) in MAOB (P27338) is a missense change. 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.
N48D (p.Asn48Asp) variant details
- p.Asn48Asp
- ExAC rs747397495
- gnomAD rs747397495
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- REVEL 0.53
- MetaLR 0.65
- MetaSVM 0.09
- CADD 19.40
- PolyPhen-2 0.04
- SIFT 0.22
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available