H115R (p.His115Arg) variant of MAOB (P27338)
H115R (p.His115Arg) in MAOB (P27338) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
H115R (p.His115Arg) variant details
- p.His115Arg
- ExAC rs776406971
- TOPMed rs776406971
- gnomAD rs776406971
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.117
- REVEL 0.06
- MetaLR 0.02
- MetaSVM -1.02
- CADD 5.71
- PolyPhen-2 0.10
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00037)
- Structural context available