D51D (p.Asp51Asp) variant of KCNJ2 (P63252)
D51D (p.Asp51Asp) in KCNJ2 (P63252) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
D51D (p.Asp51Asp) variant details
- p.Asp51Asp
- gnomAD 17-70175192-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.094
- CADD 1.89
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available