D50V (p.Asp50Val) variant of KCNB1 (Q14721)
D50V (p.Asp50Val) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and published literature.
D50V (p.Asp50Val) variant details
- p.Asp50Val
- rs1982613470
- gnomAD 20-49299373-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 17.00
- Population evidence available
- Literature evidence available