A3A (p.Ala3Ala) variant of KCNJ3 (P48549)
A3A (p.Ala3Ala) in KCNJ3 (P48549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs1436354741
- gnomAD 2-154698784-A-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 15.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available