A33A (p.Ala33Ala) variant of KCNJ11 (Q14654)
A33A (p.Ala33Ala) in KCNJ11 (Q14654) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A33A (p.Ala33Ala) variant details
- p.Ala33Ala
- rs1489389760
- gnomAD 11-17387993-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 10.10
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available