P2Q (p.Pro2Gln) variant of KCNB1 (Q14721)
P2Q (p.Pro2Gln) 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 0.64 / 1. The record also includes population frequency data.
P2Q (p.Pro2Gln) variant details
- p.Pro2Gln
- rs1279418021
- ClinGen CA408952650
- ClinVar RCV002601967
- Likely benign
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.55
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 26)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available