N125S (p.Asn125Ser) variant of MAOA (P21397)
N125S (p.Asn125Ser) in MAOA (P21397) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Brunner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
N125S (p.Asn125Ser) variant details
- p.Asn125Ser
- rs201799429
- ClinGen CA10390766
- ClinVar RCV001809165
- ExAC rs201799429
- Uncertain significance
- Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.42
- MetaLR 0.06
- MetaSVM -1.16
- CADD 23.10
- PolyPhen-2 0.92
- SIFT 0.03
- ClinVar: Uncertain significance (Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.8e-05)
- Structural context available