S2N (p.Ser2Asn) variant of MAOB (P27338)
S2N (p.Ser2Asn) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S2N (p.Ser2Asn) variant details
- p.Ser2Asn
- ExAC rs778172877
- gnomAD rs778172877
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -0.98
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Ashkenazi Jewish population (allele frequency 5.2e-05)
- Structural context available