P67S (p.Pro67Ser) variant of KCNQ2 (O43526)
P67S (p.Pro67Ser) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 7; Inborn genetic diseases; Early-in. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P67S (p.Pro67Ser) variant details
- p.Pro67Ser
- rs972841085
- ClinGen CA317423801
- ClinVar RCV001198887
- ClinVar RCV002560259
- Uncertain significance
- Developmental and epileptic encephalopathy, 7; Inborn genetic diseases; Early-in
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.42
- CADD 21.10
- PolyPhen-2 0.39
- SIFT 0.24
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 7; Inborn genetic di)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)