A44A (p.Ala44Ala) variant of KCNJ5 (P48544)
A44A (p.Ala44Ala) in KCNJ5 (P48544) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A44A (p.Ala44Ala) variant details
- p.Ala44Ala
- rs757867512
- gnomAD 11-128911405-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0834
- CADD 0.39
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available