D80G (p.Asp80Gly) variant of KCNB1 (Q14721)
D80G (p.Asp80Gly) in KCNB1 (Q14721) is a missense change. Clinical records from ClinVar, EBI, 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 0.39 / 1. The record also includes population frequency data.
D80G (p.Asp80Gly) variant details
- p.Asp80Gly
- rs1980519601
- ClinGen CA408950830
- ClinVar RCV003748650
- Ensembl rs1980519601
- Benign
- Developmental and epileptic encephalopathy, 26
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.25
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Benign (Developmental and epileptic encephalopathy, 26)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)