W107C (p.Trp107Cys) variant of MAOB (P27338)
W107C (p.Trp107Cys) 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 0.74 / 1. The record also includes population frequency data and structural context.
W107C (p.Trp107Cys) variant details
- p.Trp107Cys
- rs769571980
- ClinGen CA10391301
- ClinVar RCV004416015
- ExAC rs769571980
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.74
- MetaLR 0.78
- MetaSVM 0.57
- CADD 26.60
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 3.8e-05)
- Structural context available