D125E (p.Asp125Glu) variant of KCNB1 (Q14721)
D125E (p.Asp125Glu) in KCNB1 (Q14721) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
D125E (p.Asp125Glu) variant details
- p.Asp125Glu
- 1000Genomes rs201414449
- ESP rs201414449
- ExAC rs201414449
- TOPMed rs201414449
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.51
- CADD 23.30
- PolyPhen-2 0.91
- SIFT 0.05
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)