P49P (p.Pro49Pro) variant of KCNJ5 (P48544)
P49P (p.Pro49Pro) in KCNJ5 (P48544) 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.
P49P (p.Pro49Pro) variant details
- p.Pro49Pro
- rs1197675827
- gnomAD 11-128911420-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0958
- CADD 2.14
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available