C42F (p.Cys42Phe) variant of KCNJ11 (Q14654)
C42F (p.Cys42Phe) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
C42F (p.Cys42Phe) variant details
- p.Cys42Phe
- 1000Genomes rs534808921
- ExAC rs534808921
- gnomAD rs534808921
- Missense
- Variant Prioritization Score for Impact Estimate 0.891
- REVEL 0.96
- CADD 26.80
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available