L54F (p.Leu54Phe) variant of KCNQ2 (O43526)
L54F (p.Leu54Phe) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L54F (p.Leu54Phe) variant details
- p.Leu54Phe
- ExAC rs778112358
- gnomAD rs778112358
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.44
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available