L97P (p.Leu97Pro) variant of MAOA (P21397)
L97P (p.Leu97Pro) 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 0.78 / 1. The record also includes structural context.
L97P (p.Leu97Pro) variant details
- p.Leu97Pro
- rs2147085459
- ClinGen CA413004727
- ClinVar RCV001952245
- Ensembl rs2147085459
- Uncertain significance
- Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- AlphaMissense 0.85
- MetaLR 0.86
- MetaSVM 0.79
- PolyPhen-2 0.98
- SIFT 0.05
- EVE 0.43
- ClinVar: Uncertain significance (Brunner syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available