R129W (p.Arg129Trp) variant of MAOA (P21397)
R129W (p.Arg129Trp) 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 0.70 / 1. The record also includes population frequency data and structural context.
R129W (p.Arg129Trp) variant details
- p.Arg129Trp
- rs1800464
- ClinGen CA413004952
- ClinVar RCV003159515
- 1000Genomes rs1800464
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.69
- MetaLR 0.72
- MetaSVM 0.43
- CADD 22.60
- PolyPhen-2 0.58
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available