D50D (p.Asp50Asp) variant of KCNB1 (Q14721)
D50D (p.Asp50Asp) in KCNB1 (Q14721) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
D50D (p.Asp50Asp) variant details
- p.Asp50Asp
- rs890469274
- gnomAD 20-49299372-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 2.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Literature evidence available