S195P (p.Ser195Pro) variant of KCNQ2 (O43526)
S195P (p.Ser195Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
S195P (p.Ser195Pro) variant details
- p.Ser195Pro
- rs796052620
- ClinGen CA315359
- ClinVar RCV000187855
- ClinVar RCV000678127
- Pathogenic
- Early-infantile DEE; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.886
- AlphaMissense 0.99
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.69
- ClinVar: Pathogenic (Early-infantile DEE; Inborn genetic diseases; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)