K48K (p.Lys48Lys) variant of KCNJ5 (P48544)
K48K (p.Lys48Lys) in KCNJ5 (P48544) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
K48K (p.Lys48Lys) variant details
- p.Lys48Lys
- rs746630974
- gnomAD 11-128911417-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 8.11
- Most common in the South Asian population (allele frequency 0.00054)
- Structural context available
- Literature evidence available