S5S (p.Ser5Ser) variant of KCNA1 (Q09470)
S5S (p.Ser5Ser) in KCNA1 (Q09470) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
S5S (p.Ser5Ser) variant details
- p.Ser5Ser
- rs1290463805
- gnomAD 12-4911393-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0959
- CADD 3.53
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available