L32S (p.Leu32Ser) variant of MAOA (P21397)
L32S (p.Leu32Ser) 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 0.94 / 1. The record also includes structural context.
L32S (p.Leu32Ser) variant details
- p.Leu32Ser
- rs1131691720
- ClinGen CA413004284
- ClinVar RCV000493079
- Ensembl rs1131691720
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available