R228Q (p.Arg228Gln) variant of MAOB (P27338)
R228Q (p.Arg228Gln) in MAOB (P27338) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R228Q (p.Arg228Gln) variant details
- p.Arg228Gln
- 1000Genomes rs143144504
- ESP rs143144504
- ExAC rs143144504
- TOPMed rs143144504
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.19
- MetaLR 0.03
- MetaSVM -1.09
- CADD 18.00
- PolyPhen-2 0.02
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 0.00052)
- Structural context available