S10P (p.Ser10Pro) variant of KCNB1 (Q14721)
S10P (p.Ser10Pro) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Developmental and epileptic encephalopathy, 26. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
S10P (p.Ser10Pro) variant details
- p.Ser10Pro
- rs1980531569
- ClinGen CA408952465
- ClinVar RCV002625329
- ClinVar RCV003274310
- Conflicting interpretations
- Inborn genetic diseases; Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.60
- CADD 23.80
- PolyPhen-2 0.05
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Developmental and epileptic encephalopa)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- 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)