L148F (p.Leu148Phe) variant of KCNB1 (Q14721)
L148F (p.Leu148Phe) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data.
L148F (p.Leu148Phe) variant details
- p.Leu148Phe
- TOPMed rs1479885168
- gnomAD rs1479885168
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.69
- CADD 26.20
- PolyPhen-2 0.54
- SIFT 0.04
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)