S11G (p.Ser11Gly) variant of KCNMA1 (Q12791)
S11G (p.Ser11Gly) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of KCNMA1-related disorder; Inborn genetic diseases; Generalized epilepsy-paroxysma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and published literature.
S11G (p.Ser11Gly) variant details
- p.Ser11Gly
- rs886047270
- ClinGen CA5568824
- cosmic curated COSV54238
- ClinVar RCV000370095
- Uncertain significance
- KCNMA1-related disorder; Inborn genetic diseases; Generalized epilepsy-paroxysma
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (KCNMA1-related disorder; Inborn genetic diseases; Generalized ep)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:NAXI population (allele frequency 0.083)
- 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)