S12G (p.Ser12Gly) variant of KCNMA1 (Q12791)
S12G (p.Ser12Gly) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and published literature.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- rs77602559
- ClinGen CA200416
- ClinVar RCV000173273
- ClinVar RCV000298996
- Benign/Likely benign
- not specified; not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Benign/Likely benign (not specified; not provided; Generalized epilepsy-paroxysmal dys)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)