S18S (p.Ser18Ser) variant of KCNJ3 (P48549)
S18S (p.Ser18Ser) in KCNJ3 (P48549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- rs1351839298
- gnomAD 2-154698829-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 10.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available