D79E (p.Asp79Glu) variant of KCNB1 (Q14721)
D79E (p.Asp79Glu) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data.
D79E (p.Asp79Glu) variant details
- p.Asp79Glu
- cosmic curated COSV10971
- gnomAD rs1306293360
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.12
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)