F48F (p.Phe48Phe) variant of KCNA1 (Q09470)
F48F (p.Phe48Phe) in KCNA1 (Q09470) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
F48F (p.Phe48Phe) variant details
- p.Phe48Phe
- rs886042316
- gnomAD 12-4911522-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.178
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available