T196R (p.Thr196Arg) variant of MAOB (P27338)
T196R (p.Thr196Arg) in MAOB (P27338) is a missense change. Clinical records from ClinVar, EBI, 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 0.32 / 1. The record also includes population frequency data and structural context.
T196R (p.Thr196Arg) variant details
- p.Thr196Arg
- rs781450685
- ClinGen CA10391252
- ClinVar RCV004416018
- ExAC rs781450685
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.30
- MetaLR 0.55
- MetaSVM -0.17
- CADD 12.20
- PolyPhen-2 0.05
- SIFT 0.23
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00066)
- Structural context available