S68L (p.Ser68Leu) variant of KCNB1 (Q14721)
S68L (p.Ser68Leu) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data.
S68L (p.Ser68Leu) variant details
- p.Ser68Leu
- 1000Genomes rs201504536
- gnomAD rs201504536
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.60
- CADD 24.90
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the 1KG:GBR population (allele frequency 0.0057)