G567S (p.Gly567Ser) variant of KCNMA1 (Q12791)
G567S (p.Gly567Ser) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cerebellar atrophy, developmental delay, and seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1.
G567S (p.Gly567Ser) variant details
- p.Gly567Ser
- rs2096271045
- ClinGen CA377404776
- ClinVar RCV001260493
- Ensembl rs2096271045
- Likely pathogenic
- Cerebellar atrophy, developmental delay, and seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- AlphaMissense 0.98
- MetaLR 0.42
- MetaSVM -0.31
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (Cerebellar atrophy, developmental delay, and seizures)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic