K40K (p.Lys40Lys) variant of KCNJ3 (P48549)
K40K (p.Lys40Lys) in KCNJ3 (P48549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
K40K (p.Lys40Lys) variant details
- p.Lys40Lys
- rs1684836645
- gnomAD 2-154698895-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 10.50
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- Literature evidence available