S10F (p.Ser10Phe) variant of KCNB1 (Q14721)
S10F (p.Ser10Phe) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Developmental and epileptic encephalopathy, 26. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
S10F (p.Ser10Phe) variant details
- p.Ser10Phe
- rs902335211
- ClinGen CA315158667
- ClinVar RCV001977211
- TOPMed rs902335211
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.64
- CADD 27.40
- PolyPhen-2 0.83
- SIFT 0.01
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)