G30S (p.Gly30Ser) variant of KCNQ2 (O43526)
G30S (p.Gly30Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Early-infantile DEE; not provided; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
G30S (p.Gly30Ser) variant details
- p.Gly30Ser
- rs915805727
- ClinGen CA317423903
- ClinVar RCV002373067
- ClinVar RCV003434463
- Conflicting interpretations
- Early-infantile DEE; not provided; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.61
- CADD 24.50
- PolyPhen-2 0.94
- SIFT 0.17
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; not provided; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- 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)