S34F (p.Ser34Phe) variant of KCNQ2 (O43526)
S34F (p.Ser34Phe) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S34F (p.Ser34Phe) variant details
- p.Ser34Phe
- TOPMed rs886301345
- gnomAD rs886301345
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.49
- CADD 25.20
- PolyPhen-2 0.47
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available