L568P (p.Leu568Pro) variant of KCNMA1 (Q12791)
L568P (p.Leu568Pro) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Liang-Wang syndrome.
L568P (p.Leu568Pro) variant details
- p.Leu568Pro
- NCI-TCGA TCGA novel
- Likely pathogenic
- Liang-Wang syndrome
- Missense
- ClinVar: Likely pathogenic (Liang-Wang syndrome)
- UniProt: Likely pathogenic