R47L (p.Arg47Leu) variant of KCNB1 (Q14721)
R47L (p.Arg47Leu) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar and UniProt describe it as 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.
R47L (p.Arg47Leu) variant details
- p.Arg47Leu
- NCI-TCGA Cosmic COSV6556
- Benign
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.81
- CADD 28.80
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Benign (Developmental and epileptic encephalopathy, 26)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available