V244I (p.Val244Ile) variant of MAOA (P21397)
V244I (p.Val244Ile) in MAOA (P21397) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Brunner syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes structural context.
V244I (p.Val244Ile) variant details
- p.Val244Ile
- rs1135401773
- ClinGen CA413006738
- ClinVar RCV000496099
- Ensembl rs1135401773
- Likely pathogenic
- Brunner syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- AlphaMissense 0.13
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 0.99
- SIFT 0.03
- EVE 0.51
- ClinVar: Likely pathogenic (Brunner syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available