F9C (p.Phe9Cys) variant of KMT2A (Q03164)
F9C (p.Phe9Cys) in KMT2A (Q03164) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of KMT2A-related disorder. The record also includes variant effect predictions.
F9C (p.Phe9Cys) variant details
- p.Phe9Cys
- cosmic curated COSV63291
- Likely pathogenic
- KMT2A-related disorder
- Missense
- MetaLR 0.34
- MetaSVM -0.51
- SIFT 0.00
- ClinVar: Likely pathogenic (KMT2A-related disorder)
- UniProt: Likely pathogenic