L106F (p.Leu106Phe) variant of KCNA2 (P16389)
L106F (p.Leu106Phe) in KCNA2 (P16389) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L106F (p.Leu106Phe) variant details
- p.Leu106Phe
- rs1409728773
- gnomAD 1-110601985-AAG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 10.60
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Literature evidence available