L72S (p.Leu72Ser) variant of KCNA2 (P16389)
L72S (p.Leu72Ser) in KCNA2 (P16389) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L72S (p.Leu72Ser) variant details
- p.Leu72Ser
- gnomAD 1-110604568-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 26.90
- Population evidence available
- Structural context available
- Literature evidence available