L55Q (p.Leu55Gln) variant of KCNA1 (Q09470)
L55Q (p.Leu55Gln) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L55Q (p.Leu55Gln) variant details
- p.Leu55Gln
- gnomAD 12-4911542-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.95
- MetaLR 0.89
- MetaSVM 1.01
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available