P20T (p.Pro20Thr) variant of KCNB1 (Q14721)
P20T (p.Pro20Thr) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar 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 0.63 / 1. The record also includes population frequency data.
P20T (p.Pro20Thr) variant details
- p.Pro20Thr
- TOPMed rs1489259002
- gnomAD rs1489259002
- Uncertain significance
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.55
- CADD 23.00
- PolyPhen-2 0.39
- SIFT 0.09
- ClinVar: Uncertain significance (Developmental and epileptic encephalopathy, 26)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)