A18A (p.Ala18Ala) variant of KCNJ11 (Q14654)
A18A (p.Ala18Ala) in KCNJ11 (Q14654) 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.
A18A (p.Ala18Ala) variant details
- p.Ala18Ala
- rs193922564
- gnomAD 11-17388038-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.37
- Most common in the Latino/Admixed American population (allele frequency 0.00039)
- Structural context available
- Literature evidence available