P53T (p.Pro53Thr) variant of KCNB1 (Q14721)
P53T (p.Pro53Thr) 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 0.87 / 1. The record also includes population frequency data and structural context.
P53T (p.Pro53Thr) variant details
- p.Pro53Thr
- rs2516924520
- ClinGen CA408951534
- ClinVar RCV002296818
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.93
- CADD 27.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available