R31P (p.Arg31Pro) variant of KCNB1 (Q14721)
R31P (p.Arg31Pro) 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 0.81 / 1. The record also includes population frequency data and structural context.
R31P (p.Arg31Pro) variant details
- p.Arg31Pro
- rs2122803896
- ClinGen CA408951993
- ClinVar RCV002160317
- Ensembl rs2122803896
- Likely benign
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.82
- CADD 28.50
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Likely benign (Developmental and epileptic encephalopathy, 26)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available