G6S (p.Gly6Ser) variant of KCNMA1 (Q12791)
G6S (p.Gly6Ser) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Generalized epilepsy-paroxysmal dyskinesi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- rs914048941
- ClinGen CA210159570
- ClinVar RCV000639889
- ClinVar RCV001252027
- Uncertain significance
- Inborn genetic diseases; not provided; Generalized epilepsy-paroxysmal dyskinesi
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Generalized epilepsy-paro)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00031)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)