P2S (p.Pro2Ser) variant of KCNB1 (Q14721)
P2S (p.Pro2Ser) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Developmental and epileptic encephalopathy, 26. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
P2S (p.Pro2Ser) variant details
- p.Pro2Ser
- rs1054441474
- ClinGen CA315158702
- ClinVar RCV001034297
- TOPMed rs1054441474
- Likely benign
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.49
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 26)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)