G50R (p.Gly50Arg) variant of MAOA (P21397)
G50R (p.Gly50Arg) in MAOA (P21397) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
G50R (p.Gly50Arg) variant details
- p.Gly50Arg
- rs2147080866
- ClinGen CA413004398
- ClinVar RCV001568131
- Ensembl rs2147080866
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 0.98
- MetaLR 0.78
- MetaSVM 0.83
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available